[Cerebral hydatic cysts in children]. / Les kystes hydatiques cérébraux chez l'enfant.

BACKGROUND: Brain cysts caused by Echinococcus granulosus are rare; they occur during childhood in endemic areas. PATIENTS: Six children, aged to 8.5-years old (mean age: 5.5 years) were admitted from 1989 to 1994 because they suffered from progressive intracranial hypertension. The brain CT-scan showed typical features of supratentorial, unilocular (four cases) or multilocular (two cases) cysts. Three children had positive serological test; two had another cyst into their lung or liver and the third had generalized cysts. This last patient died post-operatively while the five others recovered after excision of cysts. CONCLUSION: Any progressive intracranial hypertension in endemic areas requires brain CT-scan that clearly identifies the cyst and its location.

[CHARGE association]. / Association CHARGE.

BACKGROUND: The spectrum of CHARGE association includes coloboma, heart disease, choanal atresia, retarded growth and development and/or CNS anomalies, genital anomalies and/or hypogonadism and ear anomalies and/or deafness. CASE REPORT: A 4 1/2 month-old boy was admitted suffering from microphthalmia. His weight was 6 kg (-1 SD), height 60 cm (-2 SD) and his head circumference was 44 cm (+ 2 SD). He had hypotonia. Examination showed low-set ears, micrognathia, coloboma, left choanal atresia and genital hypoplasia. His heart was normal. CONCLUSION: The CHARGE association must be recognized early since it may be complicated by respiratory and feeding difficulties which can be lethal.

[Protée syndrome associated with renal lithiasis and vesico-ureteral reflux]. / Syndrome de Protée associé à une lithiase rénale avec reflux vésico-urétéral.

BACKGROUND: Proteus syndrome is characterized by a range of various manifestations. The main ones are partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly. Urinary tract abnormalities are exceptional. CASE REPORT: A 6 year-old boy was examined because he had presented numerous abnormalities from birth. His weight was 26 kg (+3 SD) and his height was 135 cm (+4 SD). The main abnormalities were ptosis, pterygium colli, nevi of the cervical area, plagiocephaly, frontal bossing, scoliosis, hemihypertrophy involving the skin, mucosa and bones, macrodactyly, varicose veins and lipomatosis. He underwent surgery at the age of 3 years for urinary lithiasis associated with an ureterovesical reflux on the left side, i.e. the side of hemihypertrophy. CONCLUSION: This case suggests that Proteus syndrome may be an example of ectomesodermal dysembryoplasy but it requires confirmation by a report of at least one other case of obstruction of the ureteropelvic junction on the same side as hemihypertrophy.

[Dermatitis herpetiformis and chronic diarrhea: a case]. / Dermatite herpétiforme et diarrhée chronique: une observation.

We report on a case of dermatitis herpetiformis in an eight-year-old boy presenting diarrhoea, short stature and characteristic skin rash. Jejunal biopsy showed a partial villous atrophy. The diagnosis was confirmed by immunofluorescence which showed granular IgA deposits in the papillary dermis. On a gluten-free diet associated with dapsone, the child gained weight and height, with partial resolution of the rash.

[Schwartz-Jampel syndrome (osteochondromuscular dystrophy)]. / Le syndrome de Schwartz-Jampel (dystrophie ostéochondromusculaire).

BACKGROUND: Schwartz-Jampel syndrome is a rare disorder inherited as an autosomal recessive trait and characterized by growth retardation, multiple skeletal abnormalities, myotonia-like muscle disorders and unusual facies. CASE REPORTS: Case n. 1: A boy, aged 3 years 4 months, was admitted for acute respiratory disease. His main abnormalities included rigid facial expression, blepharophimosis, puckered lips, short neck, pectus carinatum, acetabular dysplasia with coxa vara, platyspondyly and marked growth retardation. There was a continuous muscle fiber activity at rest, with abnormal discharges originating in the muscle component of the neuromuscular junction. Blood investigations revealed low values of IgA. The child died at 4 years. Case n. 2: The sister of case n. 1 was examined at 14 months of age. She presented milder facies abnormalities, difficulties of gait because of stiff hips, muscular hypertrophy, coxa vara and growth retardation. X-rays showed skeletal abnormalities and the electromyogram was similar to those of her brother. She had dislocation of her optic lens. CONCLUSION: These 2 sibs have the characteristic manifestations of Schwartz-Jampel syndrome. Parental consanguinity was also present. The IgA deficiency observed in case n. 1 and the lens dislocation in case n. 2 have both been occasionally reported in this syndrome.

[Tumoral calcinosis. Apropos of a further case in a child]. / Calcinose tumorale. A propos d'une nouvelle observation chez l'enfant.

Tumor-like calcinosis is an infrequent condition whose etiology is poorly understood. Calcifications develop in the subcutaneous tissue neighboring the large joints. All age groups can be affected, although the disease is more common before the age of twenty years. A new case of tumor-like calcinosis in an eight-year-old girl is reported here. A huge mass in the right hip region and a smaller mass around the right elbow were found. Biologic studies revealed increased serum phosphorus levels with normal serum calcium levels. Roentgenograms confirmed the diagnosis of tumor-like calcinosis by showing calcified masses independent from the bones of the neighboring joint. Management consisted in complete removal of both masses. Outcome was favorable. In this patient's family, the disease appears to be inherited according to a dominant pattern, although recessive autosomal transmission is believed to be more common.

[Pneumoblastoma]. / Le pneumoblastome.

Pneumoblastoma is a rare malignant pulmonary tumor. A new case is reported in a 2 years 5 month-old girl. Because the lack of locoregional extension an isolated surgical excision was performed. However, 6 months later, a local relapse occurred, with inframediastinal extension and cerebral metastases. On the occasion of this case, the authors review the problems set by the histogenesis of this tumor, its therapeutic indications, poorly codified due to its rarity and, overall, its often unfavourable outcome.

[Pseudo-tumoral osteomyelitis. Immunologic study and etiopathogenic approach. Apropos of 2 cases]. / L'ostéomyélite pseudo-tumorale. Etude immunologique et approche étiopathogénique. A propos de 2 cas.

Two cases of pseudo-tumoral osteomyelitis are reported. The first concerns a 12 year-old boy who presented with pain of the left knee during 8 months and, later on, with swelling of the upper extremity of the left leg, without fever or local inflammatory signs. The radiological aspect of condensation with a filling defect and "chimney" crossing the cartilage led to osteotomy. Local bacteriological samplings were normal. The second case concerns a 11 year-old boy who, after having complained from pain of the right wrist during 2 weeks, presented with swelling and on X-ray films a picture of metaphyso-epiphyseal lysis and an aspect of sequestrum in its center. There was no biological sign of inflammation. Evolution was favorable after antibiotic treatment and immobilization. In both cases, an immunological study showed an activation syndrome of the immune system with increased serum IL-1, IL-2 receptors and class II antigen receptors on the surface of T cells, suggesting a previous immunization of both children towards staphylococcus and, thereby, the subacute nature of evolution.

[Misleading forms of visceral leishmaniasis in children. Apropos of 5 cases]. / Formes trompeuses de leishmanioses viscérales de l'enfant. A propos de 5 cas.

The authors report the cases of five children in whom kala-azar was undiagnosed at first instance. In these cases, the diagnosis was misled because of incomplete features (lack of fever, splenomegaly or hypergammaglobulinemia) an associated disease (hydatic cyst of the liver) or a complication dominating the clinical pattern (septicemia, staphylococcus respiratory infection). In one case, the patient was explored in order to diagnose portal hypertension.

[Recurrent multifocal periostosis in children. Report of a familial form]. / La périostose multifocale récurrente de l'enfant. A propos d'une forme familiale.

Recurrent multifocal periostosis of childhood is an infrequent disease. All cases reported to date have been sporadic. A familial form affecting three siblings is reported herein. Clinical and biologic features were similar to those described in the previously reported cases. This case is of particular interest for two reasons: 1) the pattern of familial clustering suggests autosomal recessive transmission; 2) repeated CT scans were performed in these patients (but not in previously reported cases) and demonstrated early involvement of the three bone layers, suggesting panostosis rather than periostosis.

[Budd-Chiari syndrome in children. Apropos of 7 cases]. / Le syndrome de Budd-Chiari chez l'enfant. A propos de 7 observations.

Seven cases of Budd-Chiari syndrome are reported in children. The mode of onset was fulminant in one case with rapidly lethal liver failure, acute in 5 cases with rapid appearance of hepatomegaly and ascites and insidious in one case, with isolated hepatomegaly. Hepatomegaly, which is a constant sign, was present in the 7 patients. Ascites and collateral venous circulation were present in 6, splenomegaly in 2 and moderate jaundice in one only. Liver function tests, deeply abnormal in the patient with fulminant liver failure, was only slightly abnormal in the 6 others. Diagnosis was corroborated by ultrasonography, cavography, hepatic veins angiography and liver biopsy in 6 patients and by post mortem examination in the 7th. Etiologic investigations did not allow finding the cause of Budd-Chiari syndrome. However, this series can be distinguished by associated total villous atrophy in 3 cases, psoriasis in one, hepatitis B in one, hepatitis A and intestinal giardiasis in one. Portasystemic shunts were performed in 3 patients. One died in the immediate postoperative period, the 2 others are presently in good health with a 5 and 6 1/2 year-follow-up. One patient died rapidly from fulminant liver failure. Another, untreated, died 16 years after the onset of the disease, from an unknown cause. Two patients are lost to follow-up.

[Waldenström's hyperglobulinemic purpura. Apropos of a case]. / Purpura hyperglobulinémique de Waldenström. A propos d'une observation.

The authors report the case of a thirteen-year-old girl who developed clinical manifestations suggestive of Schönlein-Henoch purpura and in whom biologic tests outruled this condition and led to the diagnosis of Waldenström hyperglobulinemic purpura. Investigations illustrated the immunologic nature of this disease, outruled an underlying disease and established the diagnosis of primary hyperglobulinemic purpura.

[Familial syndrome combining short stature, microcephaly, mental deficiency, seizures, hearing loss, and skin lesions. A new syndrome]. / Syndrome familial associant: nanisme, microcéphalie, oligophrénie, épilepsie, surdité et dermatose. Un nouveau syndrome.

We report the observations of three sisters with the same autosomal recessive syndrome characterized by growth retardation, microcephaly, mental deficiency, seizures, sensorineural hearing loss, and skin lesions. The congenital nature of these symptoms was confirmed by their high prevalence among other family members. This syndrome is one of the many neurocutaneous syndromes and does not seem to fit any of the previously published descriptions.