Vitamin D status and type 1 diabetes in children: evaluation according to latitude and skin color.

AIM: We aim to investigate vitamin D (25OHD) levels in children with or without type 1 diabetes (T1D) according to latitude and skin color. METHODS: We compared 25OHD levels in children with T1D living in Piedmont, of Caucasian or Moroccan origin, with healthy control subjects matched for age and ethnicity. Data of resident children in Morocco, with and without T1D, were used for comparison. RESULTS: Caucasian (21.4±1.5 vs. 24.0±0.5 ng/mL, P<0.05) and Moroccan children with T1D (12.0±2.6 vs. 17.1±1.7 ng/mL, P<0.05) living in Piedmont had lower 25OHD levels than their counterparts without diabetes. Moroccan children living in Morocco with and without T1D had similar 25OHD levels. Vitamin D deficiency was associated with T1D in Caucasian and Moroccan children living in Piedmont (OR: 1.720, CI95% 1.034-2.860, P<0.03), CONCLUSION: Lower vitamin D levels were associated with T1D in Piedmont. Further studies are necessary to explain a possible relationship between vitamin D and T1D.

SLC29A3 mutation in a patient with syndromic diabetes with features of pigmented hypertrichotic dermatosis with insulin-dependent diabetes, H syndrome and Faisalabad histiocytosis.

AIMS: Atypical forms of diabetes may be caused by monogenic mutations in key genes controlling beta-cell development, survival and function. This report describes an insulin-dependent diabetes patient with a syndromic presentation in whom a homozygous SLC29A3 mutation was identified. METHODS: SLC29A3 was selected as the candidate gene based on the patient's clinical manifestations, and all exons and flanking regions in the patient's genomic DNA were sequenced. RESULTS: A homozygous splice mutation (c.300+1G>C) resulting in a frameshift and truncated protein (p.N101LfsX34) was identified. The patient had insulin-dependent diabetes, congenital deafness, short stature, hyperpigmented patches on the skin, dysmorphic features, cardiomegaly, arthrogryposis, hepatosplenomegaly, anaemia with erythroblastopenia, and an inflammatory syndrome with fever and arthritis; she also presented with a fibrotic mediastinal mass. These clinical features overlapped with pigmented hypertrichosis with insulin-dependent diabetes (PHID), H syndrome, Faisalabad histiocytosis and sinus histiocytosis with massive lymphadenopathy (SHML), all of which are also caused by SLC29A3 mutations. CONCLUSION: This is the most severe case reported of SLC29A3 mutations with cumulative features of all these syndromes. This extreme severity coincides with the most N-terminal location of the truncation mutation, thereby affecting all alternative transcripts of the gene. This case report extends the clinical variability of homozygous SLC29A3 mutations that result in a spectrum of multisystemic manifestations.

[Management of diabetic children at the University Hospital Center of Rabat: an example of partnership or personal initiative on the periphery of the school of medicine?]. / Prise en charge des enfants diabétiques au CHU de Rabat: exemple de partenariat ou initiative personnelle en marge de la faculté de médecine?

In Morocco there are at least 10,000 children under the age of 15 who suffer from type 1 diabetes who, due to the lack of appropriate management and care, are extremely susceptible to repeated hospital re-admission and long-term disabling degenerative complications. With the aim to reduce the frequency of complications, a specialised outpatient clinic was created at the children's hospital in Rabat in 1986. A multi-disciplinary team provides medical care as well as initial training and continuing education to the patients and their families according to a standardised protocol. The 700 young diabetics who are monitored in the clinic are at present autonomous in the delivery of their own daily treatment and continue to increasingly improve. After 10 years, this group of patients has experienced a diabetic retinopathy rate which is six times lower than since the onset of their illness. The programme is administered in partnership and with the financial support of a private sponsor and assistance of a parents' association. The programme is designed in compliance with the WHO Towards Unity for Health strategy and its core principles, namely: relevance, equity, quality, and effectiveness. In order to achieve sustainability, the programme needs an adopted geographic management structure and more formalised relationships linking the partners. Nevertheless, the programme could be considered as a laboratory experiment for the School of Medicine, in its search to create a wider social movement. This level of commitment implies recasting the foci of the medical training curriculum, promoting therapeutic patient education, giving more attention to the hospital's operations and building sustainable partnerships.

[Nephroprotection in young type 1 diabetic patients treated with converting enzyme inhibitor]. / Néphroprotection chez le jeune diabétique de type 1 traité par inhibiteur d'enzyme de conversion. Résultats préliminaires d'une étude prospective.

CONTEXT: Diabetic nephritis is a renal microangiopathy that represents a major cause of morbidity and mortality in diabetic patients. It is expressed either by microalbunuria, proteinuria or renal failure, depending on the stage of the diabetes. In this context, angiotensin converting enzyme inhibitors (ACEI) slow down the progression of renal damage. OBJECTIVE: To assess the nephroprotector effects of ACEI in young type 1 Moroccan diabetics with varying stages of renal damage. Methods Prospective study including 29 patients exhibiting a diabetic nephropathy and/or hypertension having been followed-up for 1 year and treated with ACEI. The following parameters were analysed on inclusion, at six months and after 1 year of treatment: systolic arterial pressure (SAP), diastolic arterial pressure (DAP), mean arterial pressure (MAP), urinary excretion of albumin, 24-hour proteinuria, creatininemia, creatinine clearance, glycosylated haemoglobin, kalemia, total cholesterol and triglycerides. RESULTS: The mean age of our patients was of 23.6 +/- 5.5 years, the age at onset of diabetes was of 9.3 +/- 2.6 years. According to the renal damage, we determined 4 groups of patients: Group I: microalbuminuria (10 patients), Group II: proteinuria (7 patients), Group III: renal failure (6 patients), Group IV: isolated hypertension (6 patients). Study of the progression of the clinical and biological parameters, during treatment with converting enzyme inhibitors (combined with diuretics in Groups II and III) revealed: In Group I: a decrease in urinary excretion of albumin, which returned to normal in 3 cases, in Group II: a decrease in the proteinuria, which became a microalbuminuria in 4 cases, in Group III: a stabilisation of renal function concomitant to a reduction in proteinuria, in Group IV: a significant reduction in mean arterial pressure. CONCLUSION: One year of treatment with ACEI appears effective on reducing proteinuria levels and stabilising the renal function in young type 1 diabetic patients.

Response of apolipoprotein AIV and lipoproteins to glycaemic control in young people with insulin-dependent diabetes mellitus.

Young people with insulin-dependent diabetes mellitus (IDDM) (n = 104, 7 to 19 years old) were classified into groups of good (I), fair (II), and poor (III) diabetic control and compared to 22 healthy controls of same origin and age range. Triglycerides (TG) were significantly elevated with respect to controls only in group III, and total cholesterol was increased by over 40% (p < 0.01) mainly due to low density lipoprotein-cholesterol (LDL-C). Apolipoprotein B (apo B) was over 40% higher in groups II and III. TG, LDL-C, and apo B concentrations all positively correlated with HbA1c levels. Neither HDL-C nor apolipoprotein AI (apo AI) were affected by glycaemic control, but phospholipids were increased in all three subgroups of IDDM subjects (p < 0.001). Over the course of 6 months' treatment, TG, apo B, and LDL-C varied in parallel with HbA1c, confirming a tight association with the quality of glycaemic control. Apolipoprotein AIV (apo AIV) was higher in all groups and closely related to glycaemic control (r = +0.43, p < 0.001), independent of TG or HDL. The specific and sensitive response of apo AIV to insulin deficiency suggests a direct effect at the level of intestinal synthesis.

Lipids and lipoproteins of malnourished children during early renutrition: apolipoprotein A-IV as a potential index of recovery.

Twenty-six children with marasmus and 27 with kwashiorkor were compared with 23 control children of matching ages. Kwashiorkor was characterized by increased phospholipids (NS), low (P < 0.01) apolipoprotein (apo) B-rich LDL, and near normal apo A-I and HDL-C. In children with marasmus apo B (P < 0.02) LDL-C (NS), apo A-I (P < 0.01), and HDL-C (P < 0.001) decreased. Fifteen children in each group were followed for 2 wk. Control values were progressively reached after 2 wk. In the younger children final apo B was higher than in control subjects (P < 0.03) but apo A-I was identical. Apo A-IV, assayed because it correlates with the functional state of intestine, was near normal in children with kwashiorkor and decreased with treatment. In children with marasmus apo A-IV decreased by 50%, increased with treatment in older children, but further diminished in younger children. After 2 wk apo A-IV was significantly lower in all patients than in control subjects. Apo A-IV, by remaining depressed after other variables normalized, seems a good index of nutritional status.

[Pulmonary fibro-xanthogranuloma associated with renal amyloidosis in a 5-year-old child]. / Fibroxanthogranulome pulmonaire associé à une amylose rénale chez un enfant de 5 ans.

BACKGROUND: Pulmonary fibroxanthogranuloma is a benign tumor that is rarely seen in children. Its association with renal amyloidosis is not known. CASE REPORT: A 5 year-old boy developed arthritis in his wrists and his hands became clubbed. X-rays showed a round mass in the left inferior pulmonary lobe. Sonography revealed that this mass contained fluid. Nephrotic syndrome appeared one month later. The pulmonary mass was then excised; histology indicated a fibroxanthogranuloma with no malignancy. Renal biopsy showed infiltration with amyloid substance. The nephrotic syndrome was improved one month after surgery, but contact with the child was then lost. CONCLUSION: The association of this tumor with apparently secondary amyloidosis may indicate that fibroxanthogranuloma is a pseudotumor of inflammatory origin.

[Mediterranean boutonneuse fever disclosed by severe neurological involvement]. / Fièvre boutonneuse méditerranéenne révélée par une atteinte neurologique grave.

The authors report a case of mediterranean boutonneuse fever disclosed in a 6 year-old child presenting with severe neurological disorder, coma, hypotonia, sphincteral disorders, rash and eschar at the site of bite. Rise of antibodies detected by indirect immunofluorescence test (1/80----1/320) confirmed the diagnosis. Visualization of ischemic internal capsules at cerebral CT scan brought evidence of vascular lesions in rickettsial disease.

[Infantile visceral leishmaniasis in Morocco. A review of 67 cases managed at the Rabat Hospital for children (1979-1988)]. / Leishmaniose viscérale infantile au maroc. Expérience de l'Hôpital d'Enfants de Rabat à propos de soixante-sept cas (1979-1988).

Sixty-seven cases of visceral leishmaniasis managed at the Rabat Hospital for Children from 1979 through 1988 were studied retrospectively. Mode of onset and outcome were analyzed. Clinical manifestations included enlargement of the spleen (60 cases), fever (45 cases), enlargement of the liver (38 cases), and weight loss (53 cases). Six patients had misleading onset manifestations including one case each of pigmentary lithiasis, severe marasmus without enlargement of the spleen, nephrotic syndrome, evidence of portal hypertension, jaundice, and an abdominal mass. Diagnosis was established by the bone marrow study (positive in 58 of 66 patients) or by indirect immunofluorescence (positive in 21 of 24 patients, including 6 with a negative bone marrow study). In one patient, the parasite was recovered from a jejunal biopsy specimen. Drugs used included N-methyl-glucamine in 86 cases, pentamidine in 26 cases, and sodium gluconate stibio in one case. Complete recovery was achieved in 24 patients. Seven patients failed to respond to therapy. There were 8 deaths, including 4 prior to initiation of therapy; among these four deaths, three were due to acute anemia. Another patient died after leaving the hospital despite the physician's advice to the contrary. The 3 remaining deaths were caused by toxicity of the drugs used. Thirty-one patients were lost to follow-up after initial improvement. The severity of this disease and cost of management make earlier diagnosis and faultless management imperative.

[Cerebral ischemia and severe digestive manifestations during rheumatoid purpura]. / Ischémie cérébrale et manifestations digestives sévères au cours d'un purpura rhumatoïde.

A 14-year-old male patient with Schönlein-Henoch vasculitis developed neurologic manifestations including cortical blindness, seizures and CT scan evidence of occipital ischemia. These manifestations occurred concomitantly with severe bleeding from a duodenal ulcer seen at endoscopy. Corticosteroid therapy was initially rejected then finally given because of the severity of neurologic involvement. Both neurologic and digestive manifestations improved rapidly. A control digestive endoscopy performed 30 days later was normal.

[Spontaneous hemoperitoneum complicating intraperitoneal paraganglioma]. / Hémopéritoine spontané compliquant un paragangliome intra-péritonéal.

A young man of 27 years was admitted to the medical ward because of increasing ascites over 3 months. There were no signs of portal hypertension and a diagnostic tap produced hemorrhagic liquid. Ultrasound confirmed ascites associated with an abdomino-pelvic mass. Anemia progressed and right aorto-iliac axis arteriography was carried out and demonstrated a poorly vascularised mass. Emergency surgery was carried out and demonstrated an encapsulated firm and cystic abdomino-pelvic mass of 23/18 cm with a rich vascular supply from the greater omentum and a hemoperitoneum of 7 litres secondary to rupture of this pseudo-lymphangiomatous mass. Besides large vessels from the and some loose fibrous adhesions in the pouch of Douglas there was no true implantation site attaching this mass to retroperitoneal structures, gastrointestinal tract or bladder. After ligation of the vessels the entire mass was easily resected. The post-operative course was uncomplicated. Pathological examination confirmed a paraganglioma. A full clinical pathogenic, therapeutic and evolutive study is described.