Aphallia or penile agenesis is a rare congenital malformation with an estimated incidence rate of 1 in 10 to 30 million births. More than half of aphallia cases have associated anomalies including caudal axis, cardiovascular, genitourinary, and gastrointestinal anomalies. The penile agenesis associated with adrenal insufficiency has never been reported in an infant. We report a rare case of a newborn that was diagnosed as a case of aphallia with vesicorectal fistula and vesicoureteral reflux, complicated by adrenal insufficiency with salt-wasting crisis.
Background: Rapid and accurate diagnosis of mucopolysaccharidoses (MPS) is still a challenge due to poor access to screening and diagnostic methods and to their extensive clinical heterogeneity. The aim of this work is to perform laboratory biochemical testing for confirming the diagnosis of mucopolysaccharidosis (MPS) for the first time in Morocco. Methods: Over a period of twelve months, 88 patients suspected of having Mucopolysaccharidosis (MPS) were referred to our laboratory. Quantitative and qualitative urine glycosaminoglycan (GAG) analyses were performed, and enzyme activity was assayed on dried blood spots (DBS) using fluorogenic substrates. Enzyme activity was measured as normal, low, or undetectable. Results: Of the 88 patients studied, 26 were confirmed to have MPS; 19 MPS I (Hurler syndrome; OMIM #607014/Hurler-Scheie syndrome; OMIM #607015), 2 MPS II (Hunter syndrome; OMIM #309900), 2 MPS IIIA (Sanfilippo syndrome; OMIM #252900), 1 MPS IIIB (Sanfilippo syndrome; OMIM #252920) and 2 MPS VI (Maroteaux-Lamy syndrome; OMIM #253200). Parental consanguinity was present in 80.76% of cases. Qualitative urinary glycosaminoglycan (uGAGs) assays showed abnormal profiles in 31 cases, and further quantitative urinary GAG evaluation and Thin Layer Chromatography (TLC) provided important additional information about the likely MPS diagnosis. The final diagnosis was confirmed by specific enzyme activity analysis in the DBS samples.Conclusions: The present study shows that the adoption of combined urinary substrate analysis and enzyme assays using dried blood spots can facilitate such diagnosis, offer an important tool for an appropriate supporting care, and a specific therapy, when available.
Context: Intussusception is the most common cause of small bowel obstruction in children under 4 years of age. Intussusception is not a widely recognized complication of celiac disease. Case Report: We present a clinical case of a 23-month-old boy with a 1-month history of watery diarrhea complicated by 2 episodes of intestinal obstruction, both had required surgery. He presented with acute and severe abdominal distention with bilious vomiting, and an appearance of intussusception on abdominal ultrasound. Upon further investigation, the diarrhea was found to be malabsorptive. The diagnosis of celiac disease was confirmed by the presence of specific serum autoantibodies (IgA Tissue transglutaminase and endomysium Antibodies >200 UI/ml with normal serum IgA level). He started a gluten-free diet and his symptoms were almost completely resolved. Conclusion: Recurrent intussusception may be associated with celiac disease, so celiac serology is recommended in children with recurrent intussusceptions. However, intestinal tuberculosis and lymphoma associated with enteropathy should be considered in the differential diagnosis. Intussusception in celiac disease is usually transient and should be managed expectantly rather than early surgical reduction.
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