Severe anorexia in infants in Reunion: a new autosomal recessive disease?]

BACKGROUND: Infantile anorexia is usually considered as a psychogenic disorder with benign prognosis. However, unusually severe characteristics of infantile anorexia, seen in the south of the island, seem to us in favor of a new metabolic etiology. POPULATION AND METHODS: Among 38 known cases, we retrospectively studied the best documented observations of 24 children admitted over the last 25 years to our institution. RESULTS: The sex ratio was ten females and 14 males. Twenty-three of the 24 infants lived in formerly isolated localities of the island where other hereditary diseases have been observed with an unusually high frequency. The family pedigrees favoured an autosomal recessive heredity. Severe anorexia, accompanied by irrepressible vomiting (91%), appeared at the age of 8.5 months +/- 3.5. Parenteral (54.2%) or enteral (54.2%) feeding was necessary but did not always avoid death, which occurred in 45.8% of the cases at the age of 24 months +/- 3.5. All of the children which survived had neurological disorders (pyramidal syndrome, ataxia, laryngeal palsy, mental retardation, seizures) which occurred sometimes at an early stage. The investigations did not allow the identification of any known cause. DISCUSSION: The elevated level of lactic acid in the cerebral spinal fluid seemed to indicate a possible mitochondrial disorder, eventually a mutation of an autosomal gene of the pyruvate dehydrogenase complex because of the normal lactate/pyruvate ratio, but enzymatic activities were normal. The cerebral MRI showed features of leukodystrophy. On the other hand, the elevated level of plasma serotonin seemed to indicate a disorder of the serotonin metabolism, for which an animal model exists. CONCLUSION: We propose to name this new syndrome by the acronym 'RAVINE' which associates Reunion, Anorexia, Vomiting which is Irrepressible, and Neurological signs. Linkage study might allow the localization and isolation of a gene and allow one to start understanding the biological mechanism which we suspect to be an hereditary neurobiological eating disorder.     

Acute myocardial infarction and ascending aortic aneurysm in a child with Behçet's disease

A 12-year-old boy with a history of recurrent aphthous ulcerations and cutaneous erythema nodosum suddenly experienced chest pain. Together, the symptoms and a positive skin pathergy test established a diagnosis of Beh?et's disease. An acute extensive anterior myocardial infarction was based on electrocardiography and a cardiac computed tomography confirmed an ascending aortic aneurysm. Coronary angiography showed mural irregularity and a 50% constriction in the first diagonal artery. Following treatment with urokinase, corticosteroids, colchicine, and aspirin, most symptoms gradually improved. There were no complications noted at the one-year follow-up evaluation. Myocardial infarction is a rare event in children with Beh?et's disease; treatment with corticosteroids and colchicine can result in regression of concomitant aneurysm.     

A case of cytomegalovirus-negative Ménétrier's disease with eosinophilia in a child

Ménétrier's disease is a rare form of acquired gastropathy characterized by giant rugal folds in the stomach and protein-losing gastropathy. Children with Ménétrier's disease tend to follow a benign self-limited course with symptoms typically completely resolving within 2 to 10 weeks in contrast to the chronic course in adults. A 9-year-old girl presented with a history of gradually worsening abdominal distension, increasing body weight, and abdominal pain for 2 weeks. Physical examination on admission indicated periorbital swelling, pitting edema in both the legs, and abdominal distension with mild diffuse tenderness and shifting dullness. Laboratory tests on admission showed hypoalbuminemia, hypoproteinemia, and peripheral eosinophilia. The test result for anticytomegalovirus immunoglobulin M was negative. Increased fecal alpha 1 anti-trypsin excretion was observed. Radiological findings showed massive ascites and pleural effusion in both the lungs. On gastroscopy, large gastric folds, erythema, erosion, and exudation were noted in the body and fundus of the stomach. Microscopic findings showed infiltration of eosinophils and neutrophils in the gastric mucosa. Her symptoms improved with conservative treatment from day 7 of hospitalization and resolved completely.     

Kaposi’s sarcoma in a child with Wiskott-Aldrich syndrome

Introduction Kaposi’s sarcoma (KS) is rare in childhood. It may be favored by acquired immune deficiencies, but the predisposing factors to KS in other children are unclear.Discussion KS has been reported in only two children and one adult with primary immunodeficiency. We report here a Tunisian child with a Wiskott-Aldrich syndrome who developed KS at the age of 14 months.Conclusion This observation expands the spectrum of primary immunodeficiencies associated with KS in childhood.     

Guillain-Barré syndrome in a child with normal tendon reflexes

We describe the case of a 10-year-old child with the acute motor axonal neuropathy (AMAN) form of Guillain-Barré syndrome (GBS) with preserved tendon reflexes, 6 days after a bout of gastroenteritis. The child quickly showed weakness of the distal muscles of his four limbs, with preserved tendon reflexes and a raised CSF protein concentration with no cells. Nerve conduction studies showing motor axonal degeneration confirmed the diagnosis of GBS in spite of preserved tendon reflexes. The serum was positive for IgG antibodies to gangliosides GM1 and GD1b. The child received intravenous immunoglobulins, which resulted in a favorable progression. This case proves that GBS with normal tendon reflexes exists. The other cases of SGB with preserved tendon reflexes already described in the literature were the AMANs form with antibodies to gangliosides in the serum and only adults were affected.     

The child with a non-blanching rash: how likely is meningococcal disease?

AIMS: To examine a number of simple clinical features and investigations in children with a non-blanching rash to see which predict meningococcal infection. METHODS: A total of 233 infants and children up to 15 years of age presenting with a non-blanching rash were studied over a period of 12 months. Clinical features and laboratory investigations were recorded at presentation. The ability of each to predict meningococcal infection was examined. RESULTS: Eleven per cent had proven meningococcal infection. Children with meningococcal infection were more likely to be ill, pyrexial (>38.5 degrees C), have purpura, and a capillary refill time of more than two seconds than non-meningococcal children. Five children with meningococcal disease had an axillary temperature below 37.5 degrees C. No child with a rash confined to the distribution of the superior vena cava had meningococcal infection. Investigations were less helpful, although children with meningococcal infection were more likely to have an abnormal neutrophil count and a prolonged international normalised ratio. No child with a C reactive protein of less than 6 mg/l had meningococcal infection. CONCLUSIONS: Most children with meningococcal infection are ill, have a purpuric rash, a fever, and delayed capillary refill. They should be admitted to hospital and treated without delay. Children with a non-blanching rash confined to the distribution of the superior vena cava are very unlikely to have meningococcal infection. Measurement of C reactive protein may be helpful-no child with a normal value had meningococcal infection. Lack of fever at the time of assessment does not exclude meningococcal disease.     

A case of Ménétrier disease in a child

Ménétrier disease is a protein-losing gastroenteropathy often misdiagnosed in the pediatric population. The disease is characterized by hypoalbuminemia secondary to protein loss through the gastrointestinal mucosa and resultant peripheral edema. It is important for emergency department practitioners to consider this diagnosis in the differential diagnosis for edema and low albumin levels in pediatric patients. We present a case report of Ménétrier disease in an edematous child and a brief review.     

The Pallister-Killian syndrome in a child with rare karyotype—a diagnostic problem

The Pallister-Killian syndrome is a clinically recognizable syndrome, usually due to a tissue-specific mosaicism for a 12p isochromosome [i(12p)]. We report a rare case of Pallister-Killian syndrome with 12p mosaicism, tetrasomy/trisomy/disomy in fibroblasts and trisomy/disomy in lymphocytes. Marker chromosomes were investigated with conventional cytogenetic techniques and fluorescent in situ hybridisation (FISH). The karyotype was established as: mos47,XX,+12p/47,XX,+i(12p)/46,XX. The cytogenetic result of the extra mosaic 12p presented in lymphocytes suggested the diagnosis of trisomy 12p, although, in combination with clinical manifestations, the Pallister-Killian syndrome was considered and confirmed by the cytogenetic analysis of fibroblasts.     

A child with Behçet's disease presenting with a spectrum of inflammatory manifestations including epididymoorchitis

Beh?et's disease is a systemic vasculitis affecting arterioles and venules and is characterized by recurrent oral ulcers, genital ulcers and ocular inflammation. It can involve any organ but joints, skin, central nervous system and gastrointestinal tract are the most common sites. Here we report an 11-year-old Beh?et's disease patient presenting with attacks of myositis accompanied by epididymoorchitis and periodic fever attacks as well as a separate attack of thrombophlebitis.     

Caroli’s syndrome with ureterovesical calculi in a young child

An 18-month-old boy was admitted with fever, abdominal pain, and hepatomegaly. CT scan revealed dilatation of intrahepatic biliary radicals with central dot sign, bilateral nephrocalcinosis, multiple ureteric and urinary bladder stones and right-sided obstructive hydroureteronephrosis due to a ureterovesical calculus of about 1.5 cm. Liver biopsy showed early hepatic fibrosis.     

Focal nodular hyperplasia in a child with Beckwith–Wiedemann syndrome

Beckwith–Wiedemann Syndrome (BWS) is associated with somatic overgrowth and a high risk for embryonal tumors, including hepatoblastoma, a highly malignant liver tumor of childhood. Focal nodular hyperplasia (FNH), on the other hand, is a benign tumor of the liver that is uncommon in childhood. Herein we describe a case of FNH in a child with BWS, the first such report in the literature.     

Myelofibrosis: a cause of increased transfusion requirement in a child with β-thalassemia intermedia

A 10-year-old girl presented with gradually increasing pallor and abdominal distension for 1 year and fever for 6 months. She required 3 packed cell transfusions during this interval. Investigations done revealed that the child had thalassemia intermedia and parents were carrier of β-thalassemia gene. The increased transfusion requirement in this case prompted further investigations, which revealed the presence of myelofibrosis. Case reports of myelofibrosis and myelodysplastic syndromes with acquired hemoglobin disorders exist in literature, especially α-thalassemia. To the best of our knowledge, this is the first reported case of β-thalassemia intermedia in association with myelofibrosis.     

Magnetic resonance cystography with gadopenetate dimeglumine of a cystic craniopharyngioma in a child – a technical note

Large cystic craniopharyngiomas can be treated with chemotherapy injected directly into the cyst. Chemotherapy is toxic if it leaks from the cyst into the subarachnoid space. We present a child with a cystic craniopharyngioma following surgical placement of a catheter into the cystic component. Computed tomography following iodinated contrast injection into the cyst was inconclusive in determining the cyst wall integrity. Magnetic resonance following dilute gadopentetate dimeglumine injection into the cyst clearly defined a leak into the subarachnoid space. Coronal imaging was especially helpful. This technique is simple to perform and useful for clinical management. Received: 23 April 1999/Accepted: 24 May 1999