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Vascular hamartomas represent a focal proliferation of disorganized vascular tissue, which is usually present at birth. An 8-month-old Scottish fold female cat presented with abdominal distention, mild dyspnea, pale mucous membranes, and lethargy. Ultrasound examination revealed a hepatic mass resembling multiple cysts affecting the right medial lobe. Surgical excision was performed, and tissue samples were sent for histopathological evaluation. The mass was composed of multiple, dilated, variably-sized well-differentiated arterioles and venules, consistent with vascular hamartoma. Immunohistochemical investigation of the cells lining the cystic structures showed positive immunolabeling for vimentin and negative immunolabeling for PanCK, supporting the histological diagnosis. Based on existing literature, this represents the first case of hepatic localization of vascular hamartoma in a cat. In addition, a comparative histological study between vascular hamartoma and biliary duct hamartoma and a review on hepatic vascular hamartomas in animals and hepatic cystic masses in cats was made.

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Hepatic cystadenoma is a rare disease, accounting for about 5% of all cystic lesions, with a high tendency of malignant transformation. The preoperative diagnosis of cystadenoma is difficult, and some cystadenomas are easily misdiagnosed as hepatic cysts at first. Hepatic cyst is a relatively common liver disease, most of which are benign, but large hepatic cysts can lead to pressure on the bile duct, resulting in abnormal liver function. To better understand the difference between the microenvironment of cystadenomas and hepatic cysts, we performed single-nuclei RNA-sequencing on cystadenoma and hepatic cysts samples. In addition, we performed spatial transcriptome sequencing of hepatic cysts. Based on nucleus RNA-sequencing data, a total of seven major cell types were identified. Here we described the tumor microenvironment of cystadenomas and hepatic cysts, particularly the transcriptome signatures and regulators of immune cells and stromal cells. By inferring copy number variation, it was found that the malignant degree of hepatic stellate cells in cystadenoma was higher. Pseudotime trajectory analysis demonstrated dynamic transformation of hepatocytes in hepatic cysts and cystadenomas. Cystadenomas had higher immune infiltration than hepatic cysts, and T cells had a more complex regulatory mechanism in cystadenomas than hepatic cysts. Immunohistochemistry confirms a cystadenoma-specific T-cell immunoregulatory mechanism. These results provided a single-cell atlas of cystadenomas and hepatic cyst, revealed a more complex microenvironment in cystadenomas than in hepatic cysts, and provided new perspective for the molecular mechanisms of cystadenomas and hepatic cyst.

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Although hiccups are regularly self-limited and rarely life-threatening, prolonged hiccups are bothersome, which can significantly decrease the quality of life. Here, we report a case of persistent hiccups coexisting with an enlarging liver cyst situated just below the diaphragm in a patient with autosomal dominant polycystic kidney disease (ADPKD). No other underlying etiologies related to the symptoms were suspected. The cyst was difficult to drain surgically and the patient continued with symptomatic treatment. Although rare, hepatic cysts should be considered a potential cause of prolonged hiccups in patients with ADPKD. We emphasize the significance of systematically excluding potential etiologies that cause prolonged hiccups and considering appropriate therapeutic interventions.

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Case summary: Ductal plate malformations (DPMs) are poorly documented in the veterinary literature, particularly those of the polycystic liver disease (PCLD) phenotype. A 13-year-old female spayed cat presented with progressive icterus, abdominal distension, weight loss and elevated liver enzymes. Initial empirical treatment consisting of amoxicillin/clavulanate, ursodiol and later prednisolone was attempted; however, clinical signs progressed. On abdominal ultrasound, numerous large hepatic cystic masses were noted, characterized by an anechoic center with a heterogeneous, hyperechoic wall. A post-mortem examination confirmed numerous hepatic cysts, the larger of which resulted in hemorrhage and subsequent hemoabdomen. Histologically, these cysts were determined to be of biliary origin, and a diagnosis of PCLD was assigned. Relevance and novel information: Herein, we present a detailed report of clinical, gross and histologic findings in a cat clinically affected by PCLD. This case demonstrates that cysts present in this congenital disease can ultimately lead to hepatobiliary malfunction and clinical decline via marked expansion of cysts, compression of the liver and hemoabdomen from cyst rupture. DPMs, specifically PCLD, should be considered in cats presenting with multifocal large hepatic cysts.

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Malignant melanoma is a highly aggressive disease with a propensity for metastatic spread. Although recent advances in targeted therapies have improved outcomes, effective screening for metastasis remains an important area of further research. We present a case of a man in his 70s who was recently diagnosed with recurrent, locally advanced melanoma. He presented with abdominal fullness, jaundice, and poor appetite. MR imaging of the abdomen revealed innumerable hepatic cysts with internal fluid-fluid levels which were markedly increased in size and number from recent imaging. These findings necessitated a broad differential that included parasitic or bacterial infection, metastases, or drug-induced polycystic liver disease. Subsequent biopsy revealed metastatic melanoma consistent with the patient's primary tumor. The patient was ultimately transitioned to comfort care measures due to the burden of the liver metastases and passed away shortly after presentation.

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Among the most severe complications of hepatic cystic diseases is infectious hepatic cysts (IHCs). IHCs may appear mainly among immunocompromised hosts. However, older patients have a variety of immunological conditions. The detection of the factors suppressing immunity is essential for patients with IHCs. Herein, we present the case of an 86-year-old woman admitted to the emergency department with a fever. We suspected IHCs based on changes in abdominal ultrasound findings. After multiple follow-ups to determine the cause of the fever that was unresponsive to treatment, we discovered debris in the cyst that had not been present at the time of the initial presentation. The patient was subsequently treated with percutaneous transhepatic drainage and tazobactam/piperacillin. The investigation of the causes of immunosuppression clarified the multiple skin masses. The biopsy of the mass clarified diffuse large B cell lymphoma without lymph node swellings. Consecutive ultrasound can detect findings missed during the initial presentation and changes that occur within a short period. The detection of the causes of immunosuppression is essential even among older patients with IHCs for better care among older patients.

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BACKGROUND: Hepatic myopericytoma (MPC) is an extremely rare pathological entity in the liver. Conversely, cystic hepatic lesions are a group of heterogeneous lesions encountered commonly in daily practice. Here, we report a unique case of the coexistence of primary hepatic MPC and multiple cystic hepatic lesions along with our perceptions on its diagnosis and treatment. CASE PRESENTATION: A 56-year-old female patient was found to have a left liver mass during a routine physical examination. Computer tomography (CT) and magnetic resonance imaging (MRI) confirmed the existence of a left hepatic neoplasm along with multiple hepatic cysts but could not exclude the possible malignant nature of the neoplasm. Computer tomography (CT) also identified an enlarged mediastinal lymph node with a maximum diameter of 4.3 cm, which further underwent core needle biopsy under CT guidance. A histopathological examination was performed to rule out malignancy. Afterwards, the patient underwent left hemihepatectomy to resect a solid tumor of 5.5 cm × 5 cm × 4.7 cm with multiple cystic lesions which were histopathologically examined to establish the diagnosis of myopericytoma with hepatic cysts. Postoperatively, the patient recovered from the surgery quickly without significant adverse events and was not found to have a reoccurrence of the primary pathological entity. CONCLUSIONS: This is the first reported case of a patient with the co-existence of primary hepatic myopericytoma and multiple cystic hepatic lesions undergoing surgical treatment with eventual recovery.

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The advent of enhanced radiological imaging techniques has facilitated the diagnosis of cystic liver lesions. Concomitantly, the evidence base supporting the management of these diseases has matured over the last decades. As a result, comprehensive clinical guidance on the subject matter is warranted. This guideline covers the diagnosis and management of hepatic cysts, mucinous cystic neoplasms of the liver, polycystic liver disease, caroli disease, caroli syndrome, biliary hamartomas and peribiliary cysts. On the basis of in⁃depth review of the relevant literature, this guideline provides recommendations to navigate clinical dilemmas followed by supporting text. The recommendations are graded according to the Oxford Centre for Evidence⁃based Medicine system and categorized as "weak" or "strong". This guideline aims to provide the best available evidence to aid the clinical decision⁃making process in the diagnosis and treatment of patients with cystic liver diseases, and presents the readers with translations and summarizations of the above mentioned recommendations.

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Synonymous with congenital non-obstructive saccular or fusiform intra-hepatic duct dilatation and congenital communicating cavernous ectasia of the intra-hepatic biliary tract, Caroli's syndrome (CS) is an extremely rare fibro-polycystic liver disorder characterized by ductal plate malformation and consequent peri-portal fibrosis due to segmental intra-hepatic duct dilatation. No more than 200 cases of the syndrome have been reported since 1958. CS may affect one or both lobes of the liver, but more commonly it affects the left hepatic lobe. We describe a rare case of CS localized to the right hepatic lobe in a 21-year-old male, who presented with complaints of upper gastrointestinal (GI) bleeding without any signs or stigmata of chronic liver disease. Personal as well as family history was non-significant except positive for consanguineous parental marriage. General physical examination was unremarkable except for pallor, and upper GI endoscopy revealed columns of bandable esophageal varices which led us to a line of investigations to identify the cause of portal hypertension. Blood tests were non-specific, though imaging studies chiefly abdominal ultrasound, CT abdomen and pelvis with contrast, and magnetic resonance cholangiopancreatography (MRCP) led us to confirmation of the diagnosis of CS in the right hepatic lobe with manifestations of portal hypertension as the predominant feature. Diagnosis was confirmed on liver biopsy which showed right-sided cystic dilations with congenital hepatic fibrosis.

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Background: Intrahepatic biliary cystadenoma (IBC) is a rare benign cystic tumor of the liver. So far, it has not been comprehensively understood, which causes incorrect diagnosis, treatment confusion, and even inappropriate treatment. Here, we reviewed clinical data of IBC patients in our center, shared our experiences and lessons learned, and improved the level of diagnosis and treatment. Methods: The clinical data of 10 patients with pathologically diagnosed IBC, admitted to the Department of Hepatobiliary Surgery of the Affiliated Hospital of Guangdong Medical University from January, 2007, to January, 2022 were retrospectively analyzed. Results: 10 patients underwent surgery and were discharged successfully. Cyst morphology: multiple cysts: 6 cases (6/10), monocular cyst: four cases(4/10). Six patients (6/10) were diagnosed as IBC preoperatively and received hepatectomy. Four patients with monocular cyst IBC underwent intraoperative frozen section examination, except one case showed IBC; the rest were misdiagnosed as simple liver cyst. In three misdiagnosed patients, one underwent open left hepatectomy seven days after the initial operation. The other patient refused to undergo reoperation and required follow-up observation. The last patient could not tolerate hepatectomy due to insufficient residual liver volume and chose follow-up observation. Conclusion: For IBC, especially monocular IBC, it is easy to be misdiagnosed as simple hepatic cyst, which brings great confusion to clinical treatment. We propose strengthening communication with pathologists to deepen understanding of IBC. Attention should be paid to the cyst wall's shape and the cyst fluid's properties during the operation to avoid the missed diagnosis, misdiagnosis, or even improper operation. For suspicious cases, directly choose hepatectomy to avoid reoperation after thoroughly evaluating the patient's condition.

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Intracystic hemorrhage is a rare complication of multiple hepatic cysts and can lead to hemorrhagic shock. Hence, measures should be taken to prevent the rupture of cysts. The incidence of intestinal perforation is high in patients undergoing hemodialysis. The diagnosis can be difficult in a patient without typical symptoms. We report the case of a woman in her late 60s with multiple renal and hepatic cysts, which caused chronic renal failure managed with dialysis. She presented with abdominal pain and was diagnosed with intrahepatic cystic bleeding. Continuous intravenous fentanyl was administered for pain management, which temporarily alleviated pain, but abdominal pain recurred with increased intensity when she resumed feeding. Subsequently, a contrast-enhanced computed tomography revealed perforation of the lower gastrointestinal tract. Therefore, in cases of intrahepatic cystic hemorrhage that require administration of analgesics, the complications of other diseases that may also cause acute abdominal pain should also be considered.

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The bovine aortic arch is a vascular variant related to an increased incidence of vascular and neurological complications. It should be ruled out in patients with vague neurological symptoms without a clear etiology. Our case is of a 72-year-old female patient who presented with a syncopal episode; the workup incidentally showed the aortic arch bovine variant with evidence of ischemic white matter disease more than expected for age. After reviewing the related literature, we suggest that this aortic variant is likely an independent risk factor for multiple vascular complications. A close follow-up is essential, and screening should be considered for symptomatic family members.

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Background: With advances in technology and medical treatment, laparoscopy is increasingly used in hepatic cyst surgery. We hope that the analysis the safety and efficacy of laparoscopic hepatectomy versus open hepatectomy in giant hepatic cyst surgery will provide a theoretical basis for the choice of treatment means for clinicians. Methods: By searching CNKI (China National Knowledge Infrastructure), Wanfang, VIP (China Science and Technology Journal Database), CBM (China Biology Medicine disc), PubMed, Embase and Cochrane Library databases, all Chinese- and English-language articles on the safety and efficacy of laparoscopic hepatectomy and open hepatectomy for hepatic cysts were collected from database establishment to December 2021. Endnote X9 software was used for data checking and screening. Stata 15.1 software was used to analyze the relevant data. Sensitivity analysis was used to assess heterogeneity and funnel plots were used to detect bias in the results. Results: A total of 43 relevant studies covering 3,375 patients with hepatic cysts were included: 1,733 patients in the laparoscopic hepatectomy group and 1,642 in the open hepatectomy group. Meta-analysis showed that the laparoscopic hepatectomy group had shorter operation time [standard mean difference (SMD) =-2.27, 95% confidence interval (CI): -2.63 to -1.92, P<0.001], less intraoperative blood loss (SMD =-3.62, 95% CI: -4.22 to -3.02, P<0.001), shorter hospital stay (SMD =-2.09, 95% CI: -2.41 to -1.78, P<0.001), faster postoperative gastrointestinal function recovery (SMD =-3.94, 95% CI: -4.68 to -3.20, P<0.001), and less postoperative complications [odds ratio (OR) =0.45, 95% CI: 0.35 to 0.58, P<0.001] than the open hepatectomy group, with significant statistical differences. Sensitivity analyses were largely centered, and it indicates that the results have a high stability. The funnel plot was left-right symmetrical. It indicates that the intervention group was better than the control group and the results were reliable. Discussion: There are significant differences in the safety and efficacy of laparoscopic hepatectomy compared with open hepatectomy. Laparoscopic hepatectomy can be selected to reduce postoperative pain. There were few foreign studies included, so whether our results apply to European and American populations still needs further study.

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Autosomal dominant polycystic liver disease (ADPLD) is a rare disease with variable clinical presentations, characterized by cystic enlargement of the liver. The diagnosis is made based on family history, patient's age, and liver phenotype and is confirmed by imaging tests. The treatment aims to reduce symptoms caused by the increased liver volume and can be performed by aspiration with sclerotherapy, fenestration, and liver resection. Although ADPLD is a rare disease, it is an important differential diagnosis of cystic diseases such as polycystic kidney disease; therefore, the aim of this article was to present the diagnostic and therapeutic approach of a case of ADPLD and conducting a literature review. This is the case of a 32-year-old male patient, who was hospitalized due to abdominal pain, hepatomegaly, lack of appetite, and weight loss. Imaging propaedeutics showed a significant increase in the liver volume due to hepatic cysts. After a multidisciplinary evaluation, given the clinical changes and the location of the hepatic cysts, fenestration was performed by laparotomy. The postoperative period was uneventful. The treatment was efficient in promoting symptomatic relief and improving the quality of life in this patient. Case reports on this disease are quite limited in the currently available literature, and there are gaps in knowledge with regard to the diagnosis and management of ADPLD. The importance of this article is that it will highlight the limitations in treatment options and allow physicians to make a more informed decision when diagnosing and treating a patient with ADPLD in the future.

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BACKGROUND: Simple hepatic cysts are common lesions in adults, but rare in children. Because of their benign nature, simple hepatic cysts may not be detected until they grow too large to be diagnosed and resected in a minimally invasive manner. CASE PRESENTATION: An 18-month-old girl presented with an enormous cyst occupying the entire abdomen. The beak sign on computed tomography revealed the hepatic origin of the cyst. The cyst was decompressed through the umbilicus, which was opened by the three-triangular-skin-flap technique, thus creating a working space that enabled laparoscopic surgery. The cyst was excised en bloc together with the attached hepatic parenchyma. CONCLUSIONS: Giant simple hepatic cysts occupying the entire abdomen are rare in children. Of 14 reported cases, only 1 underwent laparoscopic treatment. We have herein reported another case of a giant simple hepatic cyst in which the beak sign on imaging and the three-triangular-skin-flap umbilical opening technique were useful for its diagnosis and laparoscopic excision, respectively. Complete excision is desirable because there is a possibility of recurrence or other diseases that require total removal, including hydatid cysts and mesenchymal hamartomas.

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The advent of enhanced radiological imaging techniques has facilitated the diagnosis of cystic liver lesions. Concomitantly, the evidence base supporting the management of these diseases has matured over the last decades. As a result, comprehensive clinical guidance on the subject matter is warranted. This guideline covers the diagnosis and management of hepatic cysts, mucinous cystic neoplasms of the liver, biliary hamartomas, polycystic liver disease, caroli disease, caroli syndrome, biliary hamartomas and peribiliary cysts. On the basis of in-depth review of the relevant literature, this guideline provide recommendations to navigate clinical dilemmas followed by supporting text. The recommendations are graded according to the Oxford Centre for Evidence-Based Medicine system and categorized as "weak" or "strong" . This guideline aims to provide the best available evidence to aid the clinical decision-making process in the management of patients with cystic liver disease, and presents the readers with translations and summarizations of the above mentioned recommendations.

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Introducción: Quistes hepáticos son formaciones de contenido líquido-seroso rodeado de parénquima hepático normal y sin comunicación con la vía biliar intrahepática. Mayor incidencia en adultos mayores de 50 años, con una relación mujer / hombre de 1.5: 1. Son asintomáticos. Los síntomas se presentan debido a su tamaño o bien por la presencia de complicaciones como la hemorragia, la rotura, la infección intraquística, o la compresión de estructuras adyacentes. Objetivo: Caracterizar a una paciente que presenta quiste hepático gigante complicado por rotura traumática. Caso clínico: Paciente femenino de 81 años, acudió a emergencia luego de haber presentado caída impactándose sobre superficie dura a nivel de parrilla costal e hipocondrio derecho, presentó dolor abdominal intenso acompañado de nausea y vómito. Al examen físico mostró signos claros de irritación peritoneal. Se realizó tomografía axial computarizada que reporta rotura de la pared de quiste hepático y aproximadamente 600 ml de líquido libre en cavidad. Se efectúo tratamiento quirúrgico de emergencia al realizar destechamiento del quiste y lavado de la cavidad. Conclusiones: Los quistes hepáticos, debido a su tamaño o complicaciones pueden poner en peligro la vida de los pacientes. Es necesario que dentro del arsenal diagnóstico del cirujano esté presente el conocimiento de esta patología(AU)

Introduction: Hepatic cysts are formations with liquid-serous content surrounded by normal liver parenchyma and without communication with the intrahepatic bile duct. It is reported with higher incidence in adults over fifty years of age, with a women/men ratio of 1.5: 1. They are asymptomatic; symptoms appear due to either their size or the presence of complications such as hemorrhage, rupture, intracystic infection, or compression of adjacent structures. Objective: To characterize a patient with a giant hepatic cyst complicated by traumatic rupture. Clinical case: A 81-year-old female patient went to the emergency room after falling and subsequently impacting herself on a hard surface at the level of the rib cage and right hypochondrium; she presented intense abdominal pain accompanied by nausea and vomiting. The physical examination showed clear signs of peritoneal irritation. A computerized axial tomography was performed, reporting rupture of the hepatic cyst wall and approximately 600 mL of free fluid within the cavity. Emergency surgical treatment was performed after cyst unroofing and cavity washing. Conclusions: Hepatic cysts, due to their size or complications, can endanger the patients' lives. It is necessary for the surgeon to consider knowledge of this condition as part of his or her diagnostic resources(AU)

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Hepatic cysts are found in heterogeneous disorders with different pathogeneses, of which simple hepatic cysts and polycystic liver diseases are two major types. The process of hepatic cytogenesis for these two diseases is caused by defects in remodelling of the ductal plate during biliary tract development, which is called ductal plate malformation. SOX9 is a transcription factor participating in the process of bile duct development, and thus, its dysregulation may play important roles in hepatic cystogenesis. SEC63 encodes an endoplasmic reticulum membrane protein that is mutated in human autosomal dominant polycystic liver disease. However, the transcriptional regulation of SEC63 is largely unknown. In the present study, a liver-specific Sox9 knockout (Sox9LKO ) mouse was generated to investigate the roles and underlying mechanism of SOX9 in hepatic cystogenesis. We found that hepatic cysts began to be observed in Sox9LKO mice at 6 months of age. The number and size of cysts increased with age in Sox9LKO mice. In addition, the characteristics of hepatic cytogenesis, including the activation of proliferation, absence of primary cilium, and disorder of polarity in biliary epithelial cells, were detected in the livers of Sox9LKO mice. RNAi silencing of SOX9 in human intrahepatic biliary epithelial cells (HIBEpic) resulted in increased proliferation and reduced formation of the primary cilium. Moreover, Sec63 was downregulated in primary biliary epithelial cells from Sox9LKO mice and SEC63 in HIBEpic transfected with siSOX9. Chromatin immunoprecipitation assays and luciferase reporter assays further demonstrated that SOX9 transcriptionally regulated the expression of SEC63 in biliary epithelial cells. Importantly, the overexpression of SEC63 in HIBEpic partially reversed the effects of SOX9 depletion on the formation of primary cilia and cell proliferation. These findings highlight the biological significance of SOX9 in hepatic cytogenesis and elucidate a novel molecular mechanism underlying hepatic cytogenesis. © 2021 The Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

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Background: Standard treatments for nonparasitic hepatic cysts (NPHCs) include laparoscopic deroofing (LD), percutaneous aspiration, and alcohol sclerotherapy. However, these treatments have limitations. LD and alcohol sclerotherapy, for example, fail to prevent NPHC recurrences, although alcohol sclerotherapy is satisfactorily effective in treating small cysts (diameter <5 cm), which do not usually need treatment. The present study introduces a novel surgical procedure, laparoscopic enucleation with intact cyst (LEIC), which may prevent postoperative cyst recurrence. Materials and Methods: In this study, we enrolled 14 patients, with NPHCs larger than 9 cm in diameter, who underwent LEIC. Dissection and coagulation were performed using the harmonic shear enucleation and bipolar coagulation techniques. We attempted to completely remove the cysts intact. Results: For all patients, symptoms disappeared after complete elimination of the cyst capsule. No complications (hemorrhage or bile leakage) were found during the perioperative period. The mean follow-up period was 19.3 months (range 10-38 months), during which no recurrences or complications were noted. Conclusions: LEIC is a novel surgical approach that shows satisfactory efficacy and safety in patients with large, surficial, and symptomatic NPHCs. LEIC's main advantage is that it can efficiently prevent cyst recurrence and decrease postoperative morbidity. However, its long-term efficacy and safety require further verification, especially with huge cysts.

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BACKGROUND & AIMS: Isolated autosomal-dominant polycystic liver disease (ADPLD) is generally considered a rare disease. However, the frequency of truncating mutations to ADPLD genes in large, population sequencing databases is 1:496. With the increasing use of abdominal imaging, incidental detection of hepatic cysts and ADPLD has become more frequent. The present study was performed to ascertain the incidence and point prevalence of ADPLD in Olmsted County, MN, USA, and how these are impacted by the increasing utilisation of abdominal imaging. METHODS: The Rochester Epidemiology Project and radiology databases of Mayo Clinic and Olmsted Medical Center were searched to identify all subjects meeting diagnostic criteria for definite, likely, or possible ADPLD. Annual incidence rates were calculated using incident cases during 1980-2016 as numerator, and age- and sex-specific estimates of the population of Olmsted County as denominator. Point prevalence was calculated using prevalence cases as numerator, and age- and sex-specific estimates of the population of Olmsted County on 1 January 2010 as denominator. RESULTS: The incidence rate and point prevalence of combined definite and likely ADPLD were 1.01 per 100,000 person-years and 9.5 per 100,000 population, respectively. Only 15 of 35 definite and likely incident ADPLD cases had received a diagnostic code, and only 8 had clinically significant hepatomegaly. The incidence rates were much higher when adding possible cases, mainly identified through radiology databases, particularly in recent years and in older patients because of the increased utilisation of imaging studies. CONCLUSIONS: Clinically significant isolated ADPLD is a rare disease with a prevalence <1:10,000 population. The overall prevalence of ADPLD, however, to a large extent not clinically significant, is likely much higher and closer to the reported genetic prevalence. LAY SUMMARY: Isolated autosomal-dominant polycystic liver disease (ADPLD) is generally considered a rare disease. However, we demonstrate that it is a relatively common disease, which is rarely (<1:10,000 population) clinically significant.