RESUMEN
MAPK-activating death domain protein (MADD) deficiency is associated with a broad clinical spectrum ranging from mild developmental impairment to fatal multisystem disorder. We report an additional case of severe form with some overlapping and unreported systemic features in a growth-restricted full-term male newborn. The novel findings include corpus callosum agenesis, bilateral adrenal agenesis, scrotal aplasia, and abnormal skin pigmentation. Microscopic changes are only remarkable in thyroid gland that shows decreased, variously sized follicles with absent or non-vacuolated pale colloid. This unique constellation of birth defects is associated with a novel homozygous in-frame MADD gene deletion (NM_003682.4: c.4853_4855delGCT:p.Cys1618del). This case report expands the phenotypic and genetic spectrum of MADD deficiency.
Asunto(s)
Agenesia del Cuerpo Calloso , Factores de Intercambio de Guanina Nucleótido , Recién Nacido , Humanos , Masculino , Dominio de Muerte , Factores de Intercambio de Guanina Nucleótido/genética , Proteínas Adaptadoras de Señalización del Receptor del Dominio de Muerte/genéticaRESUMEN
PURPOSE: Situs inversus totalis is mirror transposition of thoracic and abdominal organs. Very few reports have been published on anatomic dissections of cadavers with this condition. METHODS: This work describes a case of situs inversus totalis identified during the anatomical dissection of a 91-year-old woman. RESULTS: Thoracic and abdominal viscera were inverted, but otherwise normal. The aorta originated from the right ventricle, which exhibited characteristics of the systemic ventricle. The pulmonary artery originated from the left ventricle, which had a tricuspid valve, three papillary muscles, thick trabeculae, a supraventricular crest, and septomarginal trabecula. The atrial situs was concordant with ventricular morphology. Lungs and paranasal sinuses were not suggestive of Kartagener's syndrome. Only the right adrenal gland was present, and variations in vascular anatomy were observed. The latter included: the celiac trunk branching into a phrenic artery, the splenic artery and a right gastric artery; the common hepatic artery originating from the superior mesenteric artery; and, on the left side, two inferior thyroid arteries, both originating from thyrocervical trunk. The occurrence of a double inferior thyroid artery and agenesis of adrenal gland was never communicated in situs inversus. Embryonic origin of celiac trunk and superior mesenteric artery variations could be explained by the separation at higher levels of the longitudinal anastomoses formed between the four roots of omphalomesenteric artery. CONCLUSION: It can be hypothesized that this phenomenon could occur more frequently in situs inversus than in situs solitus. However, the number of cases investigated in such detail is too small to draw firm conclusions.
Asunto(s)
Glándulas Suprarrenales/anomalías , Vasos Sanguíneos/anomalías , Situs Inversus , Anciano de 80 o más Años , Variación Anatómica , Cadáver , Femenino , HumanosRESUMEN
Congenital adrenal agenesis is an extremely rare condition wherein the adrenal glands fail to develop. The absence of adrenal tissue results in the complete absence of hormones produced in the adrenal cortex (cortisol, aldosterone) and medulla (catecholamines), and is not compatible with postnatal life without artificial hormone replacement therapy. To date, 9 cases of adrenal agenesis have been reported, many of which are associated with additional congenital anomalies. Most cases were not detected on antenatal imaging and were detected incidentally at postmortem examination. We present a case of adrenal agenesis, detected incidentally at postmortem examination after termination of pregnancy for suspected fetal hydrops, and review the heterogeneous phenotype of this condition with associated abnormalities and molecular genetics. This case reinforces the role of the perinatal autopsy to investigate cause of perinatal mortality, allowing correlation of pathology with antenatal imaging findings and clinical details.