The frequency of Duchenne muscular dystrophy/Becker muscular dystrophy and Pompe disease in children with isolated transaminase elevation: results from the observational VICTORIA study

IntroductionElevated transaminases and/or creatine phosphokinase can indicate underlying muscle disease. Therefore, this study aims to determine the frequency of Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) in male children and Pompe disease (PD) in male and female children with isolated hypertransaminasemia.MethodsThis multi-center, prospective study enrolled patients aged 3–216 months with serum alanine transaminase (ALT) and/or aspartate transaminase (AST) levels >2× the upper limit of normal (ULN) for ≥3 months. Patients with a known history of liver or muscle disease or physical examination findings suggestive of liver disease were excluded. Patients were screened for creatinine phosphokinase (CPK) levels, and molecular genetic tests for DMD/BMD in male patients and enzyme analysis for PD in male and female patients with elevated CPK levels were performed. Genetic analyses confirmed PD. Demographic, clinical, and laboratory characteristics of the patients were analyzed.ResultsOverall, 589 patients [66.8% male, mean age of 63.4 months (standard deviation: 60.5)] were included. In total, 251 patients (188 male and 63 female) had CPK levels above the ULN. Of the patients assessed, 47% (85/182) of male patients were diagnosed with DMD/BMD and 1% (3/228) of male and female patients were diagnosed with PD. The median ALT, AST, and CPK levels were statistically significantly higher, and the questioned neurological symptoms and previously unnoticed examination findings were more common in DMD/BMD patients than those without DMD/BMD or PD (p < 0.001).DiscussionQuestioning neurological symptoms, conducting a complete physical examination, and testing for CPK levels in patients with isolated hypertransaminasemia will prevent costly and time-consuming investigations for liver diseases and will lead to the diagnosis of occult neuromuscular diseases. Trial RegistrationClinicaltrials.gov NCT04120168

A rare and often unrecognized cause of hematochezia and tenesmus in childhood: Solitary rectal ulcer syndrome

Solitary rectal ulcer syndrome (SRUS) is an unusual disorder of childhood, which usually presents with rectal bleeding, mucous discharge, prolonged straining, tenesmus, and localized pain in the perineal area. After the first description by Cruveilhier, Madigan and Morson further detailed the clinical and pathologic features of SRUS in 1969. The pathogenesis of the syndrome is not well-understood. The postulated mechanism responsible for rectal prolapse in most cases seems to be excessive straining efforts during which high intra-abdominal pressure forces the anterior rectal mucosa firmly into the contracting puborectalis muscle. The anterior rectal mucosa is frequently forced into the anal canal and as a consequence becomes strangulated, causing congestion, edema, and ulceration. Histologically, the presence of fibromuscular obliteration of the lamina propria with disorientation of muscle fibers is characteristic, which could be secondary to chronic mechanical and ischemic trauma and inflammation by hard stools, and intussusception of the rectal mucosa. Although the syndrome is well-recognized in adults, the pediatric experience with this condition is limited and often remains unrecognized or misdiagnosed. A misdiagnosis has been reported in one fourth of adult cases, and the correct diagnosis usually delayed approximately 5 to 7 years. There are few pediatric case reports in English literature. Here, we describe 2 children with SRUS, aged 11 and 14 years, whose SRUS was diagnosed 2 and 6 years, respectively, after the onset of the first signs and symptoms

Hepatitis A virus infection presenting with seizures

Hepatitis A infection rarely causes extrahepatic manifestations. Here we present a 5-year-old patient with an initial complaint of nuchal rigidity and convulsions during the course of hepatitis A infection. Because hepatitis A virus RNA was demonstrated in the cerebrospinal fluid, it was thought that convulsions might be related to this viral infection