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Neonates and young infants with human herpes virus 6 (HHV-6) may present with hepatitis, which is rarely fulminant. However, because HHV-6 is prevalent as a latent infection in humans, causality must be proven in patients with fulminant hepatitis. We describe a rare case of fulminant hepatitis induced by HHV-6 with concomitant central nervous system involvement and without any classic skin rash. An immunocompetent, breast-fed 14-month-old girl was admitted to our hospital because of gastrointestinal bleeding, fever, excessive sleepiness and inability to recognize parents, markedly elevated serum transaminase and severe coagulopathy. Cerebrospinal fluid polymerase chain reaction assay for viral agent was positive for HHV-6. Fortunately, the patient demonstrated a rapid improvement thereafter and did not require liver transplantation. more...

Background/Aims Gastroesophageal reflux disease (GERD) is common in children. Recurrent exposure to gastric acid in GERD may contribute to tooth erosion. Methods In this prospective study, 54 GERD patients qualified according to endoscopy, pH-metry, and the GERD questionnaire and 58 healthy controls qualified by the GERD questionnaire were assessed. Two groups underwent dental evaluations for the presence, severity, and patterns of erosion and for the stage of dentition using a Tooth Wear Index. The health care providers who performed the dental exams did not know which children had been diagnosed with GERD. Results A total of 112 children, 3 to 12 years old were enrolled in the study, and 53 of 54 (98.1%) GERD patients and 11 of 58 (19.0%) controls had dental erosions (p more...

Background: Gastrointestinal (GI) manifestations are common in patients with Henoch Schonlein Purpura (HSP) and it seems that ultrasound is the first modality for detecting GI involvement. This study was performed to evaluate the relationship between sonographic findings and clinical, and paraclinical symptoms. Methods: All patients with HSP referred to our clinic in 2011 and 2012, were enrolled in the study. The data including sonographic and other lab tests were collected and analyzed, and the association between sonographic findings and clinical, and paraclinical symptoms were evaluated. Results: Among 112 patients (68 males and 44 females), 28 cases had abnormality in their sonography that was higher in patients with GI and renal symptoms. Furthermore, length of hospitalization and need for corticosteroids was greater in patients with positive sonographic findings. Conclusions: In patients with HSP, ultrasound is a valuable modality to determine the prognosis of the disease. more...

Ulcerative colitis (UC) is a form of inflammatory bowel disease, which occasionally can be associated with autoimmune disorders. Herein, a two-year-old male infant with UC under sulfasalazine therapy is presented, who consequently developed type I diabetes mellitus, autoimmune hepatitis and autoimmune hypothyroidism. Although presence of concurrent autoimmune diseases with UC is a rare condition, it could highlight the role of immune-related mechanisms as a pathogenesis of disease. more...

Abetalipoproteinemia (ABL), or Bassen-Kornzweig syndrome, is a rare autosomal recessive disorder of lipoprotein metabolism, characterized by fat malabsorption, hypocholesterolemia retinitis pigmentosa, progressive neuropathy and acanthocytosis from early infancy. We describe the clinical and molecular characterization of a 6-month-old infant born of consanguineous, apparently healthy parents from Iran. The patient was hospitalized because of failure to thrive, greasy stool and vomiting. The patient's serum lipid profile, the clinical phenotype and the duodenal histology suggested the clinical diagnosis of ABL. The MTP gene analysis by direct sequencing revealed a novel homozygous mutation (c.1586 A > G-H529R). The parents were heterozygotes for the same mutation and interestingly the father showed a lipid profile characterized by a slight reduction of total and LDL-cholesterol plasma levels. more...

Johanson-Blizzard syndrome is a very rare autosomal recessive disorder caused by mutations in the Ubiquitin-Protein Ligase E3 Component N-Recognin 1 (UBR1) gene. The syndrome is characterized by exocrine pancreatic insufficiency and a wide range of additional clinical features, including aplasia or hypoplasia of the alae nasi, oligodontia, sensorineural hearing loss, hypothyroidism, scalp defects, mental retardation, and developmental delay. Several other abnormalities in different organs, particularly anorectal, urogenital, and cardiac anomalies have been reported since the first description of this syndrome four decades ago. UBR1 gene defects are underlying the disease. Only symptomatic treatment is available. Exocrine pancreas insufficiency plus abnormal alae nasi is pathognomonic for Johanson-Blizzard syndrome. more...

Johanson–Blizzard syndrome is a rare autosomal recessive disorder, characterized by exocrine pancreatic deficiency and a wide range of other abnormalities. We present here an infant with failure to thrive, exocrine pancreatic deficiency, short stature and developmental delay, cutis aplasia on the scalp, aplasia of alae nasi, hypospadias, hypothyroidism, myxomatous mitral valve, and patent ductus arteriosus. Molecular studies revealed a novel homozygous nonsense mutation in exon 38 of the UBR1 gene, which confirmed the diagnosis of Johanson–Blizzard syndrome. It should be acknowledged that the combination of exocrine pancreatic insufficiency and nasal wing hypo-aplasia is pathognomonic for this syndrome. Prompt diagnosis and exact monitoring of the patients with JBS are required to avoid further complications. more...