Exercise-induced rhabdomyolysis has been described in military recruits, trained athletes and daily runners. Statin use, quail ingestion, infection by Epstein-Barr virus (EBV), and hypothyroidism, though rare, are risk factors for the development of rhabdomyolysis. We describe the case of a 15-year-old female who presented with myalgias, weakness, and pigmenturia following marching band practice. Laboratory tests confirmed an elevated creatine kinase (CK) level as well as a profound hypothyroid state. Muscle biopsy revealed severe muscle necrosis and myositis. Treatment with levothyroxine resulted in obtaining an euthyroid state and regain of muscle strength as well as decrease in CK levels. Although rare, hypothyroidism should be considered as a potential cause of rhabdomyolysis in pediatric patients undergoing a myopathy workup.

Raquel Farias Moeller

Nassim Zecavati

Rosa Sherafat-Kazemzadeh

Shoshana Aleinikoff

Wolfgang Rennert

Adolescent with Rhabdomyolysis due to Undiagnosed Hypothyroidism

A 15-month-old girl, born to the consanguineous parents, was referred with the sign of massive splenomegaly associated with thrombocytopenia and anemia. Plasma Chitotriosidase estimation was carried out as a screening test and was found to be normal with reduced activity of β-glucosidase in leucocytes suggestive of Gaucher disease. At the age of 4 years, severe osteoporosis and cardiomegaly with pulmonary congestion were observed in the child. Molecular analysis for GBA gene has revealed homozygous status for L444P (c.1448C) in the proband, whereas parents and two elder sisters were found to be heterozygote. Prenatal study during the fourth pregnancy was carried out from cultured chorionic villi for β-glucosidase, which was in the carrier range. Further confirmation of the carrier status was carried out from amniotic fluid DNA and was found to be heterozygous for L444P (c.1448C) in the GBA gene. This case demonstrates that children with the sign of splenomegaly with anemia and thrombocytopenia need to be screened for Gaucher disease, and molecular study can further help to confirm the heterozygous status, where prenatal study by enzyme investigation demonstrate heterozygous condition.

J. J. Sheth

C. M. Ankleshwaria

M. A. Mistri

N. Nanavaty

S. J. Mehta

Splenomegaly, Cardiomegaly, and Osteoporosis in a Child with Gaucher Disease

Erythema nodosum is an acute, nodular, erythematous eruption usually limited to the extensor aspects of the lower legs. It could be idiopathic or associated with other systemic diseases. We, herein, report a phenotypically healthy, ten-year-old boy who presented with erythema nodosum in whom serological tests of autoimmunity and intestinal histological examination were compatible with celiac disease. The eruption resolved within 2 months following a gluten-free diet. Therefore, the possibility that erythema nodosum represents an extraintestinal manifestation of celiac disease should be kept in mind accordingly in cases where other common causes of this rash are ruled out.

Andrew Fretzayas

Maria Moustaki

Olga Liapi

Polyxeni Nicolaidou

Erythema Nodosum in a Child with Celiac Disease

We report a case of growth impairment and nutritional deficiencies in a five-month infant fed by unmodified donkey's milk. We discuss the energy and macronutrient daily intake from donkey's milk and the nutritional consequences that can occur if this kind of milk is used unmodified in the first year of life.

Enza D'Auria

Marzia Mandelli

Patrizia Ballista

Francesco Di Dio

Marcello Giovannini

Growth Impairment and Nutritional Deficiencies in a Cow's Milk-Allergic Infant Fed by Unmodified Donkey's Milk

Abdominal compartment syndrome (ACS) is defined as an elevated intraabdominal pressure with evidence of organ dysfunction. The majority of published reports of ACS are in neonates with abdominal wall defects and in adults following trauma or burns, but it is poorly described in children. We describe the unusual presentation of an 11-year-old boy with a long history of chronic constipation who developed acute ACS requiring resuscitative measures and emergent disimpaction. He presented with a 2-week history of increasing abdominal pain, nausea, diminished appetite and longstanding encopresis. On exam, he was emaciated with a massively distended abdomen with a palpable fecaloma. Abdominal XR confirmed these findings. Within 24 hours of presentation, he became tachycardic and oliguric with orthostatic hypotension. Following two enemas, he acutely deteriorated with severe hypotension, marked tachycardia, acute respiratory distress, and a declining mental status. Endotracheal intubation, fluid boluses, and vasopressors were commenced, followed by emergent surgical fecal disimpaction. This resulted in rapid improvement in vital signs. He has been thoroughly investigated and no other condition apart from functional constipation has been identified. Although ACS secondary to constipation is extremely unusual, this case illustrates the need to actively treat constipation and what can happen if it is not.

Helene Flageole

Jodie Ouahed

J. Mark Walton

Yasmin Yousef

Abdominal Compartment Syndrome Secondary to Chronic Constipation

Prader-Willi syndrome in the newborn is essentially characterized by marked hypotonia, feeding difficulties, hypogonadism, and possible characteristic facial features. However, diagnosis at this age may be particularly difficult, and dysmorphic features may be subtle or absent. Prematurity can furthermore delay clinical features  recognition and typical complications due to preterm birth may contribute to divert  the diagnosis. We describe a preterm baby with a complicated perinatal course later diagnosed as PWS.

G. Ciana

M. C. Fertz

V. Pecile

S. Demarini

Premature Birth with Complicated  Perinatal Course Delaying Diagnosis of Prader-Willi Syndrome

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Case Reports in Pediatrics publishes case reports and case series related to pediatric subspecialities such as adolescent medicine, cardiology, critical care, dentistry, developmental and behavioral medicine, endocrinology, gastroenterology etc.

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Case Reports in Pediatrics - Table of contents

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Case Reports in Pediatrics publishes case reports and case series related to pediatric subspecialities such as adolescent medicine, cardiology, critical care, dentistry, developmental and behavioral medicine, endocrinology, gastroenterology etc.

Case Reports in Pediatrics