Celiac disease and glycogenic acanthosis: a new association?

A 6-y-old boy and an 8-y-old girl were admitted to our clinic with anaemia and failure to thrive. Laboratory tests revealed iron deficiency anaemia and positive antigliadin antibodies in both of the patients. Slightly raised grey-white plaques were observed on oesophageal mucosa during endoscopical investigation of the patients. While intestinal mucosal samples confirmed diagnosis of celiac disease histologically, histopathological assessment of oesophageal lesions demonstrated glycogenic acanthosis. Since glycogenic acanthosis associated with celiac disease hasn't been reported in the literature previously to our knowledge, case reports of our patients were presented. CONCLUSION: We suggest that glycogenic acanthosis needs to be investigated as a possible new association of celiac disease in greater paediatric series.     

Association of colonic atresia and Hirschsprung’s disease in the newborn: report of a new case and review of the literature

Colonic atresia (CA) is an infrequent cause of lower gastrointestinal obstruction in the neonate. Coexistence with aganglionosis of the colon (Hirschsprung’s disease) has been reported but is generally not recognized in the neonatal period. We report another case and present a review of the literature. A boy with a lower gastrointestinal obstruction, caused by a CA type III, had creation of a proximal colostomy and a distal mucous fistula on the 1st day of life. In the preoperative work-up before restoring the continuity, rectal suction biopsies revealed the presence of Hirschsprung’s disease. When the boy was 6 months old, a distal colectomy and reanastomosis were done. Creation of a colostomy and reanastomosis in a second procedure is recommended for treating a type III CA unless distal aganglionosis has been ruled out.     

Coronary artery dilatation and vasculitis in a case of rabies: Similarity with Kawasaki disease?

A 9‐year‐old boy died of rabies complications. We report the unusual combination between rabies, coronary dilatation on echocardiography and coronary vasculitis documented upon autopsy. In the search for the etiological agent of Kawasaki disease, we suggest that a viral infection with potential antigenic similarities to rabies virus should be entertained.     

Paratesticular neuroblastoma: a case against metastatic disease?

Paratesticular lesions of neuroblastoma are in contrast to testicular infiltration extremely rare. Six cases were reported in literature. It is debated, whether localizations are either metastatic lesions or part of multicentric disease. We present a 9-month-old boy with stage 4 neuroblastoma, in which an unsuspected scrotal localization was already present at birth. This lesion had not grown, in contrast to the other sites. The case illustrates that neuroblastoma is a multicentric tumor, originating in the adrenal area and paratesticular sympathic remnants. The lesions differed in clinical behavior. It further illustrates that multicentric localizations exhibit different clinical behavior.     

A rare case report of simultaneous presentation of myopathy, Addison's disease, primary hypoparathyroidism, and Fanconi syndrome in a child diagnosed with Kearns–Sayre syndrome

Kearns–Sayre syndrome (KSS) is a rare mitochondrial DNA deletion syndrome defined as the presence of ophthalmoplegia, pigmentary retinopathy, onset less than age 20 years, and one of the following: cardiac conduction defects, cerebellar syndrome, or cerebrospinal fluid protein above 100 mg/dl. KSS may affect many organ systems causing endocrinopathies, encephalomyopathy, sensorineural hearing loss, and renal tubulopathy. Clinical presentation at diagnosis is quite heterogeneous and, usually, few organs are affected with progression to generalized disease early in adulthood. We present the case of a boy with KSS presenting at the age of 5 years with myopathy, Addison's disease, primary hypoparathyroidism, and Fanconi syndrome. The proper replacement treatment along with the administration of mitochondrial metabolism-improving agents had a brief ameliorating effect, but gradual severe multisystemic deterioration was inevitable over the next 5 years. Conclusion This report highlights the fact that in case of simultaneous presentation of polyendocrinopathies and renal disease early in childhood, KSS should be considered.     

Chronic granulomatous disease masquerading as Behçet disease: a case report and review of the literature

We describe a patient who presented at 9 years of age with oral ulcers and cutaneous lesions, meeting diagnostic criteria for Beh?et disease. At 11 years of age, she developed infectious complications and was proven to have chronic granulomatous disease, with characterization of the specific genetic mutation. We review available literature regarding overlap of these symptom complexes leading to delay in securing this important diagnosis. This is the second reported case of chronic granulomatous disease mimicking Beh?et disease, and the first report to include identification of the specific genetic mutation of the nicotinamide adenine dinucleotide phosphate oxidase complex.     

Treatment of Gorham-Stout disease with zoledronic acid and interferon-α: a case report and literature review

Gorham-Stout disease is a rare disease characterized by osteolysis, angiomatosis, and soft-tissue swelling. It is a diagnosis of exclusion and has an unknown etiology. Chylothorax is a common complication of the disease that is associated with a high mortality rate. There is no standard of treatment. We report a case of a 16-year-old female with Gorham-Stout disease and recurrent pleural effusions who was successfully treated with concurrent zoledronic acid and peg-interferon α-2b.     

Obstructive syndrome caused by trichobezoars: historical disease or disease still current? Description of a case in adolescence

Trichobezoars are masses of entangled material, found in the stomach and intestines, composed of hair ingested by the patient. When the mass grows, symptoms of intestinal occlusion can appear. Trichobezoars in pediatrics are usually found in adolescent females presenting personality disorders and trichophagia. This work describes a case of trichobezoar diagnosed in a 13 year-old girl, wearing a brace for serious scoliosis but absolutely normal from the emotional and psychical point of view, with normal scholastic and familiar situation. Already hospitalized three months before for pneumonia from mycoplasma, the girl comes to our observation for the appearance of vomiting and constipation. The clinical examination reveal an epigastric mass as big as an orange. General conditions and hematochemical tests are good. Lab tests are performed (abdomen echography and upper abdomen MNR) but is the oesophago-gastroscopy which allows the diagnosis. A big trichobezoar is then surgically removed and the gastroenteric symptoms completely disappear.     

Mycoplasma pneumoniae, splenic infarct, and transient antiphospholipid antibodies: a new association?

We report 2 children with Mycoplasma pneumoniae pulmonary infection with splenic infarcts and transient antiphospholipid antibodies. This association has not been reported previously.