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.

[Breast feeding effect relative to age of onset of celiac disease]. / Effets de l'allaitement maternel sur l'âge de début de la maladie coeliaque.

BACKGROUND: Age at onset and clinical presentation of celiac disease have often been related to the age of gluten introduction into the diet. It has also been shown that breast feeding delays the onset of the disease. PATIENTS AND METHODS: This retrospective study attempts to evaluate the respective contributions of these two parameters in the determination of the age at onset of the symptoms in celiac Tunisian children. RESULTS: One-hundred-sixty-nine children were studied. Mean duration of breast feeding in our population was 9.6 +/- 8.9 months and mean age of gluten introduction was 5.6 +/- 3.2 months. The mean age at onset of the disease was 15 +/- 8.7 months and mean latency time between gluten introduction and onset of the disease was 9.5 +/- 7.8 months. Both variables, duration of breast feeding and age at gluten introduction were strongly correlated to the age at onset of the disease (r = 0.47 and 0.40, respectively). Only breast feeding was correlated to the variable latency time (r = 0.33). Stepwise multiple regression analysis showed that the two variables independently influenced the age at onset with coefficients of regression of 0.90 +/- 0.20 and 0.26 +/- 0.07, respectively. Only breast feeding influenced the latency time with a coefficient of regression equal to 0.26 +/- 0.07. DISCUSSION: Our study confirms the independent effect of breast feeding in the determination of the age at onset of the disease. Breast feeding has two effects: an indirect effect, by delaying the introduction of gluten, and a direct effect, by increasing the latency time between gluten introduction and onset of the disease. CONCLUSION: Prolonged breast feeding, at least until the 6th month, and gluten introduction started at least at the 5th month of life, significantly delay the onset of the disease. Gluten introduction should be done progressively and under breast feeding protection. Introduction of gluten 2 months before weaning has a protective effect.

[Clinical, therapeutic and developmental aspects of acute bronchiolitis in Tunisia]. / Aspects cliniques, thérapeutiques et évolutifs des bronchiolites aiguës à Tunis.

Fourteen infants with severe acute bronchiolitis were admitted to the Intensive Care Unit (ICU) of Tunis. This pathology represents 36% of severe bronchopulmonary infections admitted to this ICU. Their age ranged between 2 and 48 weeks (mean: 15 weeks). Eight infants had hypotrophy. Two infants had congenital heart disease and one infant had tracheo-bronchomalacia. Viruses were found in 6/11 patients. Respiratory syncytial virus (RSV) was identified in five patients and an adenovirus in one patient. Five patients had respiratory arrest at ICU admission. Ten infants had evidence of atelectasis on chest X-ray films. Thirteen patients required mechanical ventilation. One infant had inappropriate antidiuretic hormone secretion resulting in convulsions. One infant had supraventricular tachycardia. Both had RSV infection. One patient who had congenital heart disease and RSV infection died. In the other 12 patients receiving mechanical ventilation, the mean duration of ventilation was 9 days (range: 2-30 days). The second patient who had congenital heart disease and RSV infection had severe respiratory sequelae at discharge.

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).

[Hepatic hydatidosis and portal hypertension in children. Is it the Budd-Chiari syndrome?]. / Hydatidose hépatique et hypertension portale chez l'enfant. S'agit-il d'un syndrome de Budd-Chiari?

A case of portal hypertension in a five-year-old with multiple hydatid cysts in the liver is reported. Compression of the portal vein was the likely mechanism. Abdominal ultrasonography disclosed four hydatid cysts of which the largest was located in segments VII and VIII and caused compression of the supra-hepatic veins and inferior vena cava. Doppler ultrasonography showed continuous venous flow without triphasic modulation in the middle suprahepatic vein and inferior vena cava. Abdominal computed tomography demonstrated compression of the inferior vena cava and failed to visualize the suprahepatic veins. Upon surgery, evidence of hepatic venous statis was found. The child died 24 hours post-surgery. Budd-Chiari syndrome should be looked for routinely in patients with hydatid disease of the liver.

[Skull fracture with progressive separation. Apropos of a case]. / Fracture évolutive des os du crâne. A propos d'une observation.

A case of fracture of the skull with progressive separation of the fracture line in a seven-month-old is reported. The patient presented with a swelling in the right parieto-occipital area and paresis of the upper left limb; there was no clear history of trauma. The roentgenogram of the skull disclosed a large bone defect and the cerebral CT scan showed herniation of intracranial contents through this defect, confirming the diagnosis of fracture of the skull with progressive separation. In this form of skull fracture, the fracture line separates gradually and herniation of intracranial contents through the opening occurs. Clinical and roentgenographic monitoring should be routinely performed in children under three years with a skull fracture and separation of the fracture line, to detect a delayed complication. The mechanisms of this fracture are discussed in the light of data from the literature.

[Congenital sensory neuropathy with anhidrosis: type IV. Apropos of 2 new cases]. / Neuropathie sensitive congénitale avec anhidrose: type IV. A propos de deux nouvelles observations.

Two new cases of congenital sensory neuropathy (CSN) type IV in brothers aged 10 and 5 years are reported. Features included diffuse lack of response to pain without loss of response to touch, temperature and proprioceptive stimuli. No other neurologic anomalies were found. Both patients had complete anhidrosis. Joint destruction, which was the result of the failure to react to painful stimuli, was the most prominent feature. Nerve biopsy specimens exhibited marked reductions in numbers of amyelinic fibers with normal numbers of myelinic fibers. These two cases of CSN type IV are discussed in the light of previously reported cases and the new classification of congenital sensory neuropathies is reviewed.

[Genetic study of congenital afibrinogenemia. Review of 12 cases]. / Contribution à l'étude génétique de l'afibrinogénémie congénitale. A propos de douze cas.

Twelve cases of congenital afibrinogenemia in 11 families are reported. A family study was performed in six cases. The parents were genetically related in 8 of the 11 families. In half the cases another sibling had the disease. In every case the direct ascendants were unaffected. On the basis of results of plasma fibrinogen assays, "unprotected" heterozygotes with no more than 2.5 g/l fibrinogen and "protected" heterozygotes with normal fibrinogen levels were differentiated. Identification of "unprotected" heterozygotes is essential for genetic counselling. The reason for this variable phenotypic expression of congenital afibrinogenemia is unclear.

[Hemiballism. Description of a clinical case in childhood]. / Paraballisme. Description d'un cas clinique chez l'enfant.

Biballism is an infrequent hyperkinetic disorder characterized by involuntary, intermittent, violent, uncontrollable contractions of the proximal muscles of the limbs. Biballism is classically ascribed to a lesion in the controlateral subthalamic nucleus or its connections but other causes have been reported. These include infections (bacterial, viral parasitic), cerebrovascular lesions, tumors, toxics, and systemic disease (systemic lupus erythematosus). Although poorly understood, the pathophysiology of hemiballism is widely believed to involve hyperactivity of the dopaminergic system. The prognosis of these abnormal movements, formerly poor, has been improved by the use of neuroleptics and drugs acting on the different neurotransmitter systems. A unique case of biballism at resolution of a febrile coma in a 4 1/2 year old is reported. The EEG showed diffuse slow waves. A hyperdense lesion was visible in the right thalamic region on the cerebral CT scan. The magnitude of the abnormal movements decreased under haloperidol. The etiology of this case of biballism is discussed.

[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.

[Interstitial nephropathy, tapeto-retinal degeneration and cataract. Apropos of a new case]. / Néphropathie interstitielle, dégénérescence tapéto-rétinienne et cataracte. A propos d'une nouvelle observation.

A case of chronic interstitial renal disease is reported. Onset was manifested at the age of three by polyuria and polydipsia. The child was hospitalized at the age of eleven for renal failure and tapetoretinal degenerescence with cataract were found. The simultaneous occurrence of interstitial renal disease and tapetoretinal degenerescence is well-known. However, this case where cataract was also present illustrates the fact that tapetoretinal degenerescence is not the only ocular abnormality found in this interstitial nephropathies.

[Thalassemia intermedia. Report of two cases]. / Thalassémie intermédiaire. A propos de deux cas.

We report two cases of intermediate beta-thalassemia diagnosed at the age of 2 years and 3 1/2 years respectively. Characteristic features of this disease include delayed onset, moderate blood transfusion requirements, and frequent development of hypersplenism. Major iron overload develops even in patients who have received no transfusions. This disease is further characterized by significant genetic heterogeneity and by a reduction in the imbalance between produced chains and deficient chains.

[Weaver's syndrome. Apropos of a new case]. / Le syndrome de Weaver. A propos d'un nouveau cas.

We report a new case of Weaver syndrome in a male infant. This clinical entity is rare and was first described in 1974. Patients exhibit accelerated growth and skeletal maturation, craniofacial dysmorphism, and widening of the distal femoral metaphyses. Differential diagnosis should mainly out-rule Marshall-Smith syndrome that includes facial dysmorphism, accelerated skeletal maturation, growth deficiency, and mental retardation. Our case is unusual in that respiratory disorders, a feature often seen in Marshall-Smith syndrome but occurring rarely in Weaver syndrome, were present, as well as congestive cardiomyopathy that has apparently never been described in this syndrome, and major macrocrania.

[Severe forms of liver involvement in visceral leishmaniasis. Apropos of 7 cases]. / Les formes sévères d'atteinte hépatique au cours de la leishmaniose viscérale. A propos de 7 cas.

In a series of 180 cases of Kala-azar, hepatic involvement was found in 16 patients. The authors report 7 cases of severe hepatitis with cytolysis, cholestasis and liver failure. These patients presented with high triglyceride, low cholesterol and low alpha-lipoprotein blood levels. The authors suggest that an activation of the mononuclear phagocyte system might explain these abnormalities.