RESUMO
ABSTRACT: Currarino syndrome (CS) is a rare congenital syndrome characterized by a triad of anorectal malformation, sacral deformity, and presacral mass. In about 50% of cases, it is caused by HLXB9 gene mutation in chromosome 7q36. A 13-month-male child presented with presacral discharging sinus with a history of surgery for anorectal malformation and perineal fistula at the time of birth. On detailed investigation, the child revealed to have anal atresia, hemisacrum, and presacral mass. Histopathology of presacral mass showed features of immature teratoma. The presacral mass in CS is mostly an anterior myelomeningocele or presacral teratoma. The development of immature teratoma in presacral mass is very rare. The histopathological identification of immature component of teratoma in the presacral mass of CS is important for risk stratification and further management. Suspicion of CS should be raised in any child presenting with partial phenotype of the triad.
Assuntos
Canal Anal , Anormalidades do Sistema Digestório , Reto , Sacro , Siringomielia , Teratoma , Humanos , Teratoma/patologia , Teratoma/cirurgia , Teratoma/diagnóstico , Masculino , Canal Anal/anormalidades , Canal Anal/cirurgia , Canal Anal/patologia , Sacro/anormalidades , Sacro/cirurgia , Sacro/patologia , Anormalidades do Sistema Digestório/cirurgia , Anormalidades do Sistema Digestório/diagnóstico , Anormalidades do Sistema Digestório/patologia , Anormalidades do Sistema Digestório/genética , Siringomielia/cirurgia , Siringomielia/genética , Siringomielia/patologia , Siringomielia/diagnóstico , Siringomielia/diagnóstico por imagem , Lactente , Reto/anormalidades , Reto/cirurgia , Reto/patologia , Anus Imperfurado/cirurgia , Anus Imperfurado/diagnóstico , Anus Imperfurado/genética , Anus Imperfurado/patologiaRESUMO
BACKGROUND: Caudal regression syndrome (CRS), also known as caudal agenesis, results from abnormal development of the caudal aspect of the spinal cord and vertebral column due to an earlier abnormality of gastrulation. RESULTS: This report showcases a unique scenario where three siblings, devoid of any prior family history or identifiable risk factors, exhibit symptoms of CRS and receive care at a government-run tertiary facility dedicated to children's health. In establishing a concrete diagnosis, we relied on skeletal surveys, comprehensive symptom evaluation, and medical history assessment. Additionally, we recommended further investigation through magnetic resonance imaging and genetic testing to attain a more in-depth understanding and confirmation of the condition. Unfortunately, the financial constraints faced by the parents led to the unfeasibility of pursuing these advanced diagnostic options. Given the rarity of this syndrome and the limited existing literature, our report is a significant contribution. It marks the first comprehensive exploration of CRS from the genetic and familial predisposition perspective, shedding new light on this rare condition. CONCLUSION: This case series pioneers our understanding of the familial and genetic connections between CRS and sacral agenesis. Strikingly, each subsequent generation has experienced more severe manifestations earlier, furnishing compelling evidence that underpins the genetic predisposition to CRS.
Assuntos
Irmãos , Humanos , Masculino , Feminino , Sacro/anormalidades , Sacro/diagnóstico por imagem , Criança , Pré-Escolar , Imageamento por Ressonância Magnética , Lactente , Meningocele/diagnóstico por imagem , Anormalidades Múltiplas , Região Sacrococcígea/anormalidadesRESUMO
Nicolaides-Baraitser syndrome (NCBRS) is a rare autosomal dominant genetic condition that is characterized by severe intellectual disability, dysmorphic facial features, short stature, sparse hair, and early onset seizures. This diagnosis is established by suggestive clinical findings and the identification of a heterozygous SMARCA2 pathogenic variant by molecular genetic testing. There are not, however, consensus clinical diagnostic criteria for this condition as there are so few documented cases. Here, we present a case of prenatally diagnosed caudal regression with sacral agenesis and congenital vertical talus (rocker bottom feet) that was ultimately found to have a de novo SMARCA2 pathogenic variant. The patient had an amniocentesis with normal karyotype and microarray followed by failed direct rapid whole exome sequencing (WES) due to maternal cell contamination. She elected for termination of the pregnancy based on the clinical prognosis of the ultrasound findings; WES revealed a pathogenic variant after her termination. We believe this is the first case of these findings associated with NCBRS. If any future cases of either finding are found in association with a SMARCA2 genetic variant, caudal regression and rocker bottom feet should be included in the spectrum of physical traits associated with this pathogenic variant.
Assuntos
Anormalidades Múltiplas , Fácies , Deficiência Intelectual , Fatores de Transcrição , Adulto , Feminino , Humanos , Gravidez , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/diagnóstico por imagem , Anormalidades Múltiplas/diagnóstico , Sequenciamento do Exoma , Deformidades Congênitas do Pé , Hipotricose , Deficiência Intelectual/genética , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/diagnóstico por imagem , Sacro/anormalidades , Sacro/diagnóstico por imagem , Fatores de Transcrição/genética , Ultrassonografia Pré-NatalRESUMO
A 2-month-old male with surgically resected sacral chordoma presented with multiple hypopigmented macules showing characteristic patchy, sharply demarcated areas of pigment network on dermoscopy. These dermoscopic findings were suggestive of the ash-leaf macules of tuberous sclerosis over other common hypopigmented macules in neonates. Chordomas presenting in early childhood in the sacral location have been reported as a rare manifestation of tuberous sclerosis complex. The combination of these findings led to a diagnosis of tuberous sclerosis, confirmed with the finding of a heterozygous TSC2 gene deletion; treatment with sirolimus resulted in regression of cardiac rhabdomyomas and hypopigmented macules.
Assuntos
Cordoma , Dermoscopia , Hipopigmentação , Sacro , Proteína 2 do Complexo Esclerose Tuberosa , Esclerose Tuberosa , Humanos , Esclerose Tuberosa/genética , Esclerose Tuberosa/diagnóstico , Esclerose Tuberosa/complicações , Masculino , Hipopigmentação/genética , Hipopigmentação/diagnóstico , Lactente , Sacro/anormalidades , Sacro/patologia , Cordoma/genética , Cordoma/diagnóstico , Cordoma/patologia , Proteína 2 do Complexo Esclerose Tuberosa/genética , Neoplasias da Coluna Vertebral/genética , Neoplasias da Coluna Vertebral/diagnóstico , Neoplasias da Coluna Vertebral/patologiaRESUMO
BACKGROUND: Lumbosacral transitional vertebrae (LSTV) are congenital anomalies of the L5-S1 segments characterized by either sacralization of the most caudal lumbar vertebra or lumbarization of the most cephalad sacral vertebra. This variation in anatomy exposes patients to additional surgical risks. METHODS: In order to shed light on surgical considerations reported for lumbar spine cases involving LSTV as described in the extant literature, we performed a systematic review in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analysis guidelines. We also present a case example in which wrong level surgery was avoided due to anatomical understanding of LSTV. RESULTS: A 48-year-old female presented with severe back pain after sustaining a fall from ten feet. The patient exhibited full motor function in all extremities but had begun to experience urinary retention. On initial imaging read, the patient was suspected to have an L1 burst fracture. A review of the imaging demonstrated a transitional vertebra. Therefore, based on the last rib corresponding to T12, the fractured level was L2. This case illustrates the risk LSTV carries for wrong site surgery; appropriate levels were then decompressed and instrumented. On systematic review of the literature according to the Preferred Reporting Items for Systematic Reviews and Meta-Analysis guidelines, a three database literature search identified 39 studies describing 885 patients with LSTV and relevant surgical considerations. The primary indications for surgery were for disc herniation (37%), Bertolotti's syndrome (35%), and spinal stenosis (25%). This cohort displayed a mean follow-up time of 23 months. Reherniation occurred in 12 patients (5.5%). Medical management through steroid injection was 24, 72% (n = 80) for the sample. Wrong level surgery occurred in 1.4% (n = 12) of patients. CONCLUSIONS: LSTV represents a constellation of changes in anatomy beyond just a sacralized or lumbarized vertebra. These anatomical differences expose the patient to additional surgical risks. This case and review of the literature highlight avoidable complications and in particular wrong level surgery.
Assuntos
Vértebras Lombares , Humanos , Feminino , Pessoa de Meia-Idade , Vértebras Lombares/cirurgia , Vértebras Lombares/anormalidades , Sacro/cirurgia , Sacro/anormalidades , Sacro/diagnóstico por imagemRESUMO
INTRODUCTION: Sacral agenesis (SA) includes a range of clinical presentations of varying severity, with implications for function and quality of life (QoL). Diagnosis is often made perinatally, and prognostic discussions become an important aspect of parental counselling. This study engaged SA sufferers and their caregivers to obtain objective, long-term patient reported outcome data. METHOD: Patients with radiologically confirmed SA from a single tertiary spinal unit underwent retrospective medical record review. Patients were then contacted by telephone to complete QoL questionnaires including EQ-ED-5L for adults and EQ-ED-Y for < 16-year-olds. Additional information including Renshaw grade, employment, living situation and bladder function was also collected. RESULTS: Twenty-six patients with SA were identified. Mean age is 23.35 years (range 0.92-63.53), 13 M:17F. Renshaw grade ranged from 1 to 4. Sixty-eight percent had associated kyphoscoliotic deformities. The majority (70%) had either impaired or absent bladder control, and 80% need walking aids to mobilise. Twenty patients completed the questionnaire (10 adults and 10 < 16-year-olds). Mean EQ-ED-5L index for adults was +0.474 (range -0.1 to +0.089, 1 = best), with a lower mean value of +0.287 (range -0.54 to +1) for the < 16-year cohort. Those undergoing spinal fusion procedures had significantly lower scores (-0.08 v +0.44, p = 0.022). CONCLUSION: This study provides an objective record of the QoL of individuals with SA, illustrating a wide variety of outcomes, with differences between younger and older individuals which may reflect the results of a long-term adaptive process. The implications for individuals should be carefully tailored to the specific deformity and the likely underlying neurological deficits.
Assuntos
Qualidade de Vida , Humanos , Feminino , Masculino , Adolescente , Adulto , Adulto Jovem , Criança , Pré-Escolar , Pessoa de Meia-Idade , Estudos Retrospectivos , Lactente , Sacro/anormalidades , Inquéritos e Questionários , Resultado do Tratamento , Anormalidades Múltiplas , Meningocele , Região Sacrococcígea/anormalidadesRESUMO
Background: Here we aim to report the persistent spinous process in the 'pan sacral type' of spina bifida occulta in an asymptomatic male and discuss its clinical significance. The presence of this type of dorsal wall defect with a bony spur attached to it has never been described in the literature to the best of our knowledge after extensive literature search. Our work presents the first anatomic description where the spinous and paraspinous cleft are seen in a sacrum of a live subject. Case Report: During a morphometric study of the sacra, normal subject computed tomography imaging (CT) was procured from the Department of Radio-diagnosis. A three-dimensional (3D) image of the sacrum was created using Dicom to Print and Geomagic freeform plus software. A complete dorsal wall defect was observed in a 3D reconstructed sacrum of an adult male. The sacral canal was converted into a groove with a bony spur hanging in the centre. The longitudinal bony spur attached to the lamina was the persistent spinous process. Conclusion: Such congenital defects are clinically significant for the anaesthetist during caudal epidural block and for orthopaedic surgeons before any surgical procedure. It may be misdiagnosed as an abnormal bony injury on CT. Thus, it is essential to ensure that patients with congenital anomalies are not treated unnecessarily for spinal fractures.
Assuntos
Espinha Bífida Oculta , Fraturas da Coluna Vertebral , Adulto , Humanos , Masculino , Sacro/diagnóstico por imagem , Sacro/anormalidades , Sacro/cirurgia , Espinha Bífida Oculta/diagnóstico por imagem , Espinha Bífida Oculta/cirurgia , Tomografia Computadorizada por Raios XRESUMO
The agenesis of any segment of the lower spinal column referred to as "caudal regression syndrome" (CRS) is a rare congenital defect of the spine. This malformation is characterized by the absence of some or the entire lumbosacral vertebral segment. Etiological factors remain unknown. We report an atypical caudal regression syndrome with lumbar agenesis, disconnected from the remaining hypoplastic sacrum, in the Eastern part of the Democratic Republic of Congo (DRC).An 11-month-old female infant with no particular fetal or maternal history presented limb weakness with flexed knees and flanges in the popliteal fossae, sphincter atony, and a sensation of emptiness on palpation in the lumbosacral region. A 3D CT scan of the spine showed the absence of the lumbar spine and disconnection of the upper segment of the thoracic spine from the hypoplastic sacrum. We noted also the absence of the sacroiliac joints bilaterally and an unusual trigonal shape of the iliac bones. MRI and sonographic examination are required in the investigation of the disease. The management is multidisciplinary and depends upon the degree of the defect. Spine reconstruction has proven to be a valuable management technique but has many complications. We wanted to draw the medical world's attention to the existence of this extremely rare malformation in the east of the Democratic Republic of Congo, a mining area.
Assuntos
Anormalidades Múltiplas , Malformações do Sistema Nervoso , Doenças da Coluna Vertebral , Lactente , Humanos , Feminino , Sacro/diagnóstico por imagem , Sacro/anormalidades , República Democrática do Congo , Região Lombossacral , Articulação Sacroilíaca/diagnóstico por imagem , Síndrome , Anormalidades Múltiplas/diagnóstico por imagemRESUMO
The sacrum and sacroiliac joints pose a long-standing challenge for adequate imaging because of their complex anatomical form, oblique orientation, and posterior location in the pelvis, making them subject to superimposition. The sacrum and sacroiliac joints are composed of multiple diverse tissues, further complicating their imaging. Varying imaging techniques are suited to evaluate the sacrum, each with its specific clinical indications, benefits, and drawbacks. New techniques continue to be developed and validated, such as dual-energy computed tomography (CT) and new magnetic resonance imaging (MRI) sequences, for example susceptibility-weighted imaging. Ongoing development of artificial intelligence, such as algorithms allowing reconstruction of MRI-based synthetic CT images, promises even more clinical imaging options.
Assuntos
Inteligência Artificial , Imageamento por Ressonância Magnética , Sacro , Humanos , Imageamento por Ressonância Magnética/métodos , Pelve , Articulação Sacroilíaca/diagnóstico por imagem , Sacro/anormalidades , Sacro/diagnóstico por imagemRESUMO
Currarino syndrome (CS) is characterized by a triad of anomalies consisting of: a sacral bone defect, anorectal malformations and a pre-sacral mass. We present the case of an adult patient with a medical history of CS who presented with septic shock and was subjected to an emergency laparotomy due to severe abdominal distension. In this particular case, we underline the importance of immediate surgery on the patient's outcome as well as the considerable role of landiolol in controlling the heart rate with no further deterioration of blood pressure in this patient presenting with atrial fibrillation and sepsis.
Assuntos
Anormalidades do Sistema Digestório , Sepse , Siringomielia , Adulto , Canal Anal/anormalidades , Humanos , Reto/anormalidades , Sacro/anormalidadesRESUMO
Pelvic magnetic resonance imaging (MRI) is the latest addition to already existing tools for evaluation of anorectal malformation (ARM). It provides detailed information about pelvic floor musculature as well as position of rectal pouch. However, lack of knowledge about normal pelvic floor anatomy can lead to misinterpretation of pelvic MRI which can create confusion and change in approach for surgery. A 14-month-old male child with diagnosis of ARM was evaluated with pelvic MRI. There was finding of abnormal protrusion of fat through the ischiorectal fossa which was misinterpreted as Currarino syndrome which created confusion immediately before posterior sagittal anorectoplasty. Pelvic MRI is highly informative while evaluating a case of ARM. However, a detailed knowledge of pelvic floor anatomy is mandatory to avoid wrong interpretation and misdiagnosis.
Assuntos
Malformações Anorretais , Siringomielia , Canal Anal/anormalidades , Canal Anal/cirurgia , Malformações Anorretais/diagnóstico , Malformações Anorretais/cirurgia , Anormalidades do Sistema Digestório , Humanos , Lactente , Masculino , Prolapso , Reto/anormalidades , Reto/cirurgia , Sacro/anormalidadesRESUMO
BACKGROUND: Curarino syndrome is a rare and complex anomaly with the triad of anorectal malformation, presacral mass and sacral bone deformation. The most common cause of the presacral mass is meningioma, but teratoma is the diagnosis in about one-third of the cases. Malignant transformation of teratoma in the form of carcinoma, rhabdomyosarcoma and leukemia have previously been reported on rare occasions. CASE: A 19 month-old-girl was referred with a presacral mass of 29mm x 23mm x 24mm. She was diagnosed as Currarino syndrome. The presacral mass was surgically resected and pathological examination revealed a foci of primitive neurectodermal tumor. CONCLUSIONS: This is the first case of Currarino syndrome with a primitive neuroectodermal tumor (PNET) foci in the presacral mass. Considering the risk of malignant transformation, the accurate pathological examination is important for complete systemic evaluation and treatment plan in these children.
Assuntos
Anormalidades do Sistema Digestório , Tumores Neuroectodérmicos Primitivos , Teratoma , Canal Anal/anormalidades , Canal Anal/patologia , Canal Anal/cirurgia , Criança , Anormalidades do Sistema Digestório/diagnóstico , Anormalidades do Sistema Digestório/cirurgia , Feminino , Humanos , Lactente , Tumores Neuroectodérmicos Primitivos/diagnóstico , Tumores Neuroectodérmicos Primitivos/cirurgia , Reto/anormalidades , Reto/patologia , Sacro/anormalidades , Siringomielia , Teratoma/diagnósticoRESUMO
ABSTRACT: The Currarino syndrome is characterized by 3 main features: anorectal malformation, presacral lesion, and dysgenesis of the sacrum and coccyx. The presacral lesion is usually benign with a rare occurrence of malignant degeneration. The author presents 2 cases of Currarino syndrome with presacral mucinous adenocarcinoma and neuroendocrine tumor depicted by 18F FDG PET/CT.
Assuntos
Anormalidades do Sistema Digestório , Sacro , Canal Anal/anormalidades , Fluordesoxiglucose F18 , Humanos , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Reto/anormalidades , Sacro/anormalidades , SiringomieliaRESUMO
OBJECTIVES: The sacral ratio (SR) was described as a postnatal X-ray-based method to detect sacral abnormalities and predict functional prognosis for fecal continence in children with anorectal malformations (ARMs). The present study aimed to describe a novel method of assessing sonographic fetal sacral ratio (f-SR) in a normal population of fetuses. METHODS: Sixty three-dimensional (3D) ultrasound reconstruction images of the sacrum obtained from routine low-risk scans performed between 21 and 26 weeks of gestation served for measurement. The f-SR was calculated in a coronal view as the ratio between lines drawn at the upper and lower levels of the iliac bone and the 5th sacral vertebra. Bland-Altman plots assessed the inter- and intrareader variabilities of measurements. RESULTS: The f-SR in the normal population of fetuses was 0.913 (±0.094). During the study period, three cases with ARM were examined and had a mean f-SR of 0.55. There was good repeatability of measurements and between readers' agreement. CONCLUSIONS: The present study introduces a novel prenatal sonographic f-SR that can be reliably calculated on prenatal 3D ultrasound with good reliability and reproducibility. Future research will identify the clinical significance of f-SR abnormalities in ARM and their long-term impact on continence.
Assuntos
Malformações Anorretais , Doenças da Coluna Vertebral , Criança , Feminino , Feto , Humanos , Gravidez , Reprodutibilidade dos Testes , Sacro/anormalidades , Sacro/diagnóstico por imagem , Ultrassonografia Pré-Natal/métodosRESUMO
Although radiographs are generally performed in the neonatal period to evaluate for causes of respiratory distress or to evaluate line placement, close attention to the osseous structures can provide important clues to an underlying diagnosis. Although segmentation anomalies can be random, they are frequently associated with more complex entities such as VACTERL association. A butterfly vertebral body can hint at a possible diagnosis of Alagille syndrome even before jaundice develops in an infant with a murmur. Close evaluation of the sacrum can identify abnormalities that point to caudal regression or Currarino triad. Other classic musculoskeletal abnormalities in the extremities are readily apparent on physical exam but require radiographic evaluation to define anatomy. Diagnoses such as congenital pseudoarthrosis of the clavicle, Apert syndrome, constriction band syndrome, and proximal focal femoral deficiency have pathognomonic imaging findings. Given that treatment for these is usually delayed until later in life, extremity imaging might not occur in the neonatal period.