[High doses of steroids in the management of caustic esophageal burns in children]. / Corticothérapie à forte dose dans le traitement des oesophagites caustiques sévères chez l'enfant.

UNLABELLED: Esophageal burns are frequent in some countries. Esophageal stricture is a severe complication after caustic ingestion. Its frequency is estimated to 5% and reaches 47% in severe esophagitis. AIM OF THE STUDY: To study the influence of management of severe esophageal burns with high doses of steroids in the occurrence of esophageal stricture through the experience of an endoscopic unit. PATIENTS AND METHODS: Twenty-six children with a mean age of 3.5 years (15 months-8 years) with a second b- (N =22) or a third-degree (N =4) esophageal burns due to accidental ingestion of a caustic substance were included between 1993 and 1999. Corrosive substances ingested were sodium hydroxide (N =17), bleach (N =4), alkali (N =3), others (N =2). Upper GI endoscopy was performed in 17 children within the 24 hours of caustic ingestion and within the first 48 hours in all cases. All patients received methylprednisolone (1 g/1.73 m2/day) plus cimetidine and ampicillin plus early oral feeding resumption. RESULTS: Three children (2 grade II et one grade I) were not controlled on day 30 of the protocol and have then been excluded. The remaining 23 children were divided in two groups depending on the upper GI endoscopic results: group I of 12 patients completely or partially healed and group II of 11 patients who developed an esophageal stricture. No difference was observed between the two groups with regard to the delay between caustic ingestion and the start of treatment and the number of shots of methylprednisolone. Second b- degree esophagitis complicated with an esophageal stricture underwent a median of five esophageal dilations (1-12). After a median follow-up of three years, four of them have a normal esophagus. All children with a third-degree esophagitis developed an esophageal stricture. One had a surgical replacement of the esophagus with a segment of colon with good outcome. The three others underwent a median of seven esophageal dilations (5-10). One of them has a normal esophagus after a follow-up of five years while the two others were lost to follow-up. CONCLUSION: High dose of corticosteroids seems to improve second b-degree esophagitis prognosis and may prevent from esophageal stricture.

Susceptibility to coeliac disease in Tunisian children and GM immunoglobulin allotypes.

Coeliac disease is a malabsorption disorder of the small intestine resulting from ingestion of gluten. The immunogenetic component is clearly demonstrated by the association of the disease with human leukocyte antigens (HLA). Among other candidate genes are the GM allotypes, which are the markers of the constant parts of heavy chains of the subclasses IgG1, IgG2 and IgG3. GM immunoglobulin allotypes have been analysed in 131 unrelated Tunisian children with coeliac disease. All patients and their parents were tested for G1M(1, 2, 3, 17), G2M(23) and G3M(5, 6, 10, 11, 13, 14, 15, 16, 21, 24, 28) by the classical haemagglutination method. Genotypes and haplotypes were deduced from phenotypes in patients and their parents. Transmission disequilibrium tests were performed in 79 informative families. The GM*3;..;5* haplotype was transmitted more often (23) than not (8) by heterozygous parents (chi 2 = 7.26; P = 0.007). This difference remained significant after correction for multiple testing. This study provides evidence for association and linkage between GM and coeliac disease. It suggests that GM or genes close to GM play a role in the development of the disease.

Methylmalonic acidaemia with bilateral globus pallidus involvement: a neuropathological study.

A 16-month-old boy was hospitalized because of a 1-day history of severe ketoacidosis with lethargy, hypotonia, vomiting, and important dyspnoea. Organic acid assay by gas chromatography-mass spectrometry confirmed the diagnosis of methylmalonic acidaemia (MMA). On the sixteenth day, he developed an acute extrapyramidal disorder. The CT scan of the brain disclosed bilaterally symmetric lucency of basal ganglia. He died at 17 months of age. Post-mortem neuropathological examination, showed severe necrosis with spongiosis, cystic cavitation and numerous lipid-laden macrophages of the globi pallidi, and mild spongiosis of subthalamic nuclei, mammillary bodies, portion of internal capsule adjacent to globus pallidus, superior cerebellar peduncles and tegmentum of brainstem. Pallidal infarction, a focal ischaemic lesion, demonstrates that ischaemia/energy depletion may be important in the etiology of the neuropathology of MMA.

Synergistic effect of two HLA heterodimers in the susceptibility to celiac disease in Tunisia.

The DR and DQ HLA genotypes of 94 Tunisian children affected with celiac disease are analyzed so that we can gain a better understanding of the HLA component of this disease. All of them carry at least one of two specific heterodimers: a DQ heterodimer, encoded by DQA1*0501, DQB1*0201 and/or a DR heterodimer, encoded by the nonpolymorphic gene DRA and the DRB4 gene. Quantifying the relative penetrances of all susceptible genotypes gives evidence for a synergistic effect of these two heterodimers and for a dose effect of the alleles encoding the beta chains of these two heterodimers. The DR3DR7 individuals have the greatest risk. They present the two kinds of heterodimers and carry two DQB1*0201 alleles. Celiac disease is the first HLA-associated disease for which the at-risk genotypes are so well delineated.

High risk genotypes for celiac disease.

It is known that celiac disease is strongly associated with an HLA class II component and that most patients carry the dimer DQA1*0501, DQB1*0201. We show in this study that the risk for a carrier of this heterodimer is independent from the number of possible heterodimers, from whether DQA1*0501 and DQB1*0201 are in cis or trans position and from the number of DQA1*0501 (one or two) but strongly depends on the number of DQB1*0201. In the Tunisian population we studied, the risk of developing celiac disease is estimated to be 6.8 times greater for those having a double dose of DQB1*0201 than for other dimer carriers. We replicated this result in published data of four other populations (Italy, Czekoslovakia, United Kingdom, Norway).

[Periostal effusion in hypernatremic dehydration with disseminated intravascular coagulation]. / Décollement périosté au cours d'une déshydratation hypernatrémique avec coagulation intravasculaire disséminée.

BACKGROUND: Several cases of hypernatremic dehydration complicated by consumption coagulopathy and peripheral gangrene have been reported. CASE REPORT: A 4.5 month-old boy was admitted suffering from acute gastroenteritis with cyanotic edema of the distal part of the left leg and foot. His serum sodium was 160 mEq/l, potassium 5.8 mEq/l and urea 27.6 mMol/l. His prothrombin level was 44%, fibrinogen 0.65 g/l and the number of platelets was 20,000/mm3. Blood cultures were negative. Ultrasonography showed a subperiostal effusion in the posterolateral part of the left tibia with edema of the adjacent soft tissues. Culture of the fluid was negative. The patient was rehydrated. Several phlyctenes appeared on the left foot; cultures of the exudate remained sterile. His condition gradually normalized within two weeks and ultrasonography performed at the 15th day was normal. CONCLUSION: The subperiostal effusion seen in our patient could have been due to microthrombosis of the metaphyseal vessels, following severe dehydration.

[Lupus in children in Tunisia]. / Lupus de l'enfant en Tunisie.

In this study, we have analyzed the clinical and serological features related to 16 Tunisian children in whom diagnosis of systemic lupus erythematosus was made before or at the age of 15. Renal involvement was found in 75% of cases and renal biopsies have mostly revealed severe histologic patterns. All of the patients who have been followed received corticosteroids and in some cases required additional cytotoxic drugs in order to control disease activity. Five children died in a context of a renal failure. This study of childhood lupus in Tunisia confirms that the clinical course of this disease in children is often aggressive.

[Scurvy in children]. / Scorbut chez l'enfant.

The authors report two cases of scurvy in two encephalopathic 3 year-old girls. The first case was misleading and was initially operated with the diagnosis of osteomyelitis. The second one presented with bleeding syndrome and subperiosteal hemorrhage. The diagnosis of scurvy was based upon deficient diet, clinical features, and periosteal cleavage at ultrasonographic evaluation. Treatment with ascorbic acid, 400 mg/d, led to a complete resolution of the clinical features. The authors emphasize the misleading features of scurvy at bone ultrasonographic evaluation and recommend a supplementation with ascorbic acid of children with severe mental retardation.

[Neonatal ascites caused by obstructive urologic disease. Apropos of 2 cases]. / Ascite néonatale par uropathie obstructive. A propos de daux cas.

We report two cases of neonatal ascites. The first case is a 24 day old male referred for abdominal distention and edema. Peritoneal tap removed a transudative fluid. Ultrasonographic evaluation revealed obstructive posterior urethral valves. Bladder drainage led to resolution of the urinary ascites and renal function normalization. Long term follow-up after endoscopic resection of valves was good. The second case is a male infant who presented at birth with abdominal distention. Radiology revealed an urinoma and a left side hydronephrosis secondary to ureteropyelic junction syndrome which underwent a successful surgical treatment. Urinary ascites is a rare entity which calls for immediate diagnosis and management to preserve renal function.

[Antenatal bilateral sylvian infarction and congenital syphilis]. / Ramollissement sylvien bilatéral anténatal et syphilis congénitale.

BACKGROUND: The classical symptoms of congenital neurosyphilis include meningovascular lesions that are responsible for CSF abnormalities. Lesions of larger vessels are very unusual. CASE REPORT: A boy was born from a neglected pregnancy, weighing 2.7 kg. He was abandoned by his parents and was admitted to hospital at 40 days of age (weight: 2,220 g; height: 47 cm; head circumference: 22 cm) with axial hypotonia, peripheral spasticity and shock syndrome. The TORCH screen was negative but the Treponema Pallidium Hemagglutination Assay (TPHA) was positive. The infant died 4 days later. Brain pathological studies revealed meningoencephalitis and bilateral sylvian infarction. CONCLUSION: Local arteritis due to syphilis usually concerns small arteries, such as the meningeal and cortical vessels. The occlusion of the two middle cerebral arteries seen in this patient, which were responsible for atrophy of the parietal lobes, is uncommon in congenital syphilis.

[Case report of skin manifestations in infantile Mediterranean kala-azar]. / A propos d'un cas de manifestations cutanées au cours du kala-azar infantile Méditerranéen.

The case of a 19-month-old girl with visceral leishmaniasis and unusual skin manifestations is reported. Emphasis is put on the fact that such manifestations are unusual in Mediterranean infantile leishmaniasis. The clinical features, parasitology, histology, and course of these skin lesions are discussed.

[Association of Hbo Arab/beta-thalassemia discovered fortuitously in 2 brothers]. / Association d'une HbO Arab/bêta-thalassémie découverte fortuitement chez deux frères.

A four-year-old boy admitted for fever and a skin rash was diagnosed as having a rickettsial infection. Regenerative microcytic anemia and enlargement of the spleen were also found. Hemoglobin electrophoresis and a family study disclosed a combination of two heterozygous hemoglobinopathies, i.e., HbO Arab and beta-thalassemia. A male sibling had the same anomalies as the index patient and was free of symptoms.

[Galactosialidosis with Kayser-Fleischer's ring]. / La galactosialidose avec anneau de Kayser-Fleischer.

The case of a 4 year-old boy presenting with dysmorphic facies, hepatomegaly, splenomegaly, growth and psychomotor retardation is reported. Radiological pattern suggested a storage disease. Bone marrow differential cell count showed numerous storage cells with vacuolated lymphocytes. Enzymatic studies showed decreased beta-galactosidase and neuraminidase levels, leading to the diagnosis of galactosialidosis. This is the first Tunisian case reported, which differs from the other cases published by the presence of a Kayser-Fleischer ring.

[An analytic study of cases of childhood diabetes in a pediatric department in Tunis]. / Etude analytique des cas de diabètes infantiles dans un service de pédiatrie de Tunis.

Insulin-dependent diabetes mellitus is common in Tunisia. Eighty-six pediatric cases managed at the diabetes clinic of a department of pediatrics in Tunis from 1979 through 1989 were studied. Relevant clinical and biological findings were abstracted from case-records. Admissions of patients with diabetes mellitus accounted for approximately 0.44% of admissions to the pediatric ward during the study period. Mean age of patients was 7 years. Sex ratio was 0.89. Polyuria with polydipsia and ketoacidosis were the two most common presenting manifestations. Mean blood glucose level at diagnosis was 22.44 mmol/l. Rate of consanguinity was 48%. HLA typing studies demonstrated a high prevalence of DR3 and DR4 alleles and especially of simultaneous expression of both these alleles. Several factors are incriminated in the development of childhood insulin-dependent diabetes mellitus.

[Visceral leishmaniasis in children. A study of hospitalized cases from 1974 to 1988 at the Children's Hospital in Tunis]. / Leishmaniose viscerale de l'enfant. Etude des cas hospitalisés de 1974 à 1988 à l'Hôpital d'Enfants de Tunis.

The authors reported 122 cases of kala-azar admitted at Tunisian Children's hospital between 1974 and 1988. This affection was concerned male child and 78% of cases were aged less than 3 years old. The clinical feature was pallor, fever and splenomegaly. The diagnosis of kala-azar was established by serological test. The death rate was 8%.