[Congenital stuart factor deficiency: 4 cases].
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Biomedical subjects
Publications and source records attributed to R Lakhoua.
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Fifteen cases of nodular lymphoid hyperplasia (NLH) of the bowel in patients aged 17 months to 15 years are reported. Fourteen patients had NLH confined to the small bowel and one had involvement of both the small bowel and colon. Mean age at diagnosis was 10 years. The most common presenting symptoms were intestinal manifestations (86%). Diagnosis was suspected upon roentgenographic studies in one case and digestive endoscopy in ten cases. Histologic confirmation was obtained in all fifteen patients. Immunohistochemical studies, done in 8 patients, demonstrated a paucity of IgA plasmocytes in one patient with an immune deficiency and a polyclonal plasmocyte population with mainly IgA plasmocytes in the seven other patients. Five patients had a deficiency in humoral immunity, with variable expression hypogammaglobulinemia in three patients and IgA deficiency in two; intestinal giardiasis was found in eight patients. Histologic outcome was documented in five cases; evidence of NLH disappeared in only one patient. Metronidazole improved clinical symptoms in most instances.
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.
Three new cases of a syndrome including osteopetrosis, tubular acidosis, mental retardation and cerebral calcifications are reported in the same sibship. This rare syndrome has an autosomal recessive inheritance and is due to carbonic anhydrase II deficiency. Fractures and mild sensorial manifestations were noticed in 2 cases. Mental deficiency and otitis were present in the 3 cases. Blood count and phosphocalcic metabolites were normal. A proximal tubular acidosis was present in each case. The radiological features were specific: cerebral calcifications were present in all cases since the age of 2 1/2 years; osteocondensation and bone modeling were predominant in long bones metaphyses. Alcalinization improved the height growth.
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.
We report a case of duplication of the mouth, tongue, mandible, and cervical spine in a female neonate. Findings in this patient were somewhat different from those in previously reported cases. Clinical, radiological and therapeutic features in this localized duplication are reviewed. Embryologic hypotheses include defective midline development, such as in the split notochord syndrome, and development of totipotent cells from the first branchial arch.
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Hydatid cysts represent a true social problem in Tunisia where 2.1% of rural inhabitants are affected. Hydatid disease is responsible for 10% of the country's surgical activity and costs approximately 800 $ per patient. From April 1967 through January 1987, 1,195 cases of hydatid cyst in children aged 2 to 15 years were treated at the Children's Hospital in Tunis. The involved organ was the lung in 643 cases, the liver in 486 cases, the spleen in 27 cases, and the kidney in 18 cases. With the exception of seven patients with malignant forms, surgery was always performed, with a 1.4% mortality rate and a 2% morbidity rate. We analyze the diagnostic and therapeutic particularities of the various locations of hydatid cyst. Diagnosis rests mainly on ultrasound findings and treatment on conservative procedures as hydatid disease in children carries a good prognosis.
Six hundred forty-three lung hydatic cysts were observed during a 20-year-period (1967-1986) in the Children's Hospital of Tunis. The mean age of the patients was 5 years (2-15 years) and sex ratio 1.6. 91.2% of the patients had a single cyst, 8.8% had multiple cysts. The association of lung and liver localisations was the one most commonly observed (10%). Intra-pleural rupture of the cyst occurred in 3 cases and intra-bronchial rupture (vomica) in 5 cases. 653 thoracotomies were performed for 710 cystectomies, 3 lobectomies and one pneumonectomy. The results are excellent with a 3% post-surgical morbidity and a 0.5% mortality. Nevertheless, hydatic disease is a serious public health problem in endemic areas.
This paper describes 62 cases of peptic complications due to gastro-oesophageal reflux in infants and children at the Children's Hospital in Tunis over a 20 years period. The age of the patients ranged from 6 months to 14 years with a majority of males. Failure to thrive, anemia and respiratory complications were the most common features. Upper gastro-intestinal series and endoscopy were performed in all patients and showed the presence of associated hiatus hernia in 53 patients, oesophagitis in 62 and oesophageal stricture in 33. All patients had a primary course of medical treatment. Fifty-three patients required Nissen's fundoplication. Thirty-one patients required oesophageal dilatation. A complete cure of the structures was achieved in all patients but 7. In the whole series, 4 children died.
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Ketoacidosis is still a frequent complication as far as our diabetic patients are concerned. The insulin regimen during this acute diabetic ketoacidosis was, until October 1981, administered at the start, half intravenously and half intramuscularly, then discontinuously every four hours, subcutaneously, according to the rate of glucose and acetoacetate. Since then, a new method has been used for the treatment of diabetic ketoacidosis providing a continuous perfusion without pumps, of insulin, glucose and electrolytes. The authors describe their experience, using this technique on ten children admitted to hospital because of severe diabetic ketoacidosis. A certain number of parameters and the evolution were studied. The glycemia graph shows a more harmonious and regular normalisation, urinary ketosis disappears within 8 and 24 hours (with an average of 16,22 h). The next step that consists in administering mixed insulin is taken between the 16th and 48th hours (with an average of 25,42 h). Two hypoglycemia have been reported contrary to the statements of other authors. Furthermore, these parameters were compared to those of 10 children submitted to the classical regimen. The authors conclude that a continuous perfusion presents a better method with approximately similar results, and its use is much simpler both for the patient and for the staff.
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