[Epidemiological and clinical characteristics of intestinal microsporidiosis]. / Caractéristiques épidémiologiques et cliniques de la microsporidiose intestinale chez les immunodéprimés vus à Tunis.

INTRODUCTION: Intestinal microsporidiosis is an opportunistic parasitological infection affecting mainly immunocompromised patients, particularly those infected with HIV. PURPOSE: The purpose of this study was to analyse the epidemiological and clinical characteristics of intestinal microsporidiosis and the treatments available for it. MATERIAL AND METHODS: This retrospective study examined records collected over a 13-year period (from January 1995 through December 2007). It included 572 immunocompromised patients (279 HIV-infected patients and 293 without HIV infection) with symptoms suggesting intestinal microsporidiosis. All were tested systematically for microsporidia spores by modified (Weber's) Trichrome staining. RESULTS: Fourteen patients (10 men, 4 women) were diagnosed with intestinal microsporidiosis, for a prevalence of 2.4% overall, 3.6% in HIV-infected patients and 1.4% in those without HIV infection. Intestinal microsporidiosis affected 10 HIV-infected patients, 70% of whom had a CD4 count <100 cells/mm3. Their mean age was 30+/-15 years (range: 15 months to 48 years). The average age of HIV-infected patients (36 years) was significantly higher than of those without HIV infection (15 years). Thirteen patients had symptoms, most frequently diarrhea (11 cases), sometimes associated with dehydration (5 cases). Eight patients (57%) received only symptomatic treatment, and 4 (28.6%) received albendazole. No treatment was recommended in 2 cases (14.3%). Clinical course was marked by improvement in 6 cases, death in 5, and persistence of asymptomatic carriage in one. Two patients were lost to follow-up. CONCLUSION: Intestinal microsporidiosis is a parasitological disease that mainly affects AIDS patients with CD4 counts <100 cells/mm3. Its diagnosis requires special techniques. Its symptomatology is dominated by chronic diarrhea that can cause dehydration. Effective treatment requires identification of the species.

[Neurologic Behçet disease]. / Neurobehçet.

BACKGROUND: Behçet's disease is very occasionally revealed by neurological abnormalities. This report describes such a case. CASE REPORT: A 13 year-old girl was admitted because of status epilepticus and fever. Clinical examination showed horizontal nystagmus, cerebellar syndrome, right hemiplegia, ophthalmoplegia and meningitis. Her CSF contained 80 lymphocytes/mm3, 0.75 milligram proteins and 0.5 milligram glucose. CT scan showed a hypodense area in the internal capsule. Two similar episodes occurred 4 and 6 months later, but all attempts at determining the etiology were negative. A diagnosis of neurological Behçet's disease was considered 10 months after the first episode when the patient developed oral ulcers followed by pseudofolliculitis of the scalp. The disease recurred several times despite treatment with prednisone, colchicine and antiaggregant drugs. CONCLUSION: Recurrent aseptic meningitis is a classic manifestation of neurological Behçet's disease. It usually appears 2 months to 27 years after the first extraneurological signs and not, as in this case, several months before.

[Robinow's syndrome associated with deafness]. / Syndrome de Robinow associé à une surdité.

BACKGROUND: Robinow mesomelic dysplasia is an autosomal dominant or recessive condition that results is a flat facial profile, mesomelic shortening and frequent genital hypoplasia. This report describes a case with bilateral deafness. CASE REPORT: A boy was born at term to consanguineous parents who have no morphological abnormalities. The child's older brother and sister are normal. The patient was admitted at the age of 5 months because of abnormal features: enlarged skull with prominent forehead, flat facial profile, hypertelorism, small chin, shortening in the mesomelic segments of the limbs and genital hypoplasia without cryptorchidism. X-rays confirmed the mesomelic shortening and showed radial head dislocation and vertebral abnormalities. These abnormalities were more evident at the age of 2 1/2 years, when a bilateral sensorineural hearing loss was detected. CONCLUSION: This case of Robinow has all the characteristic findings plus deafness. The parental consanguinity suggests that its inheritance is autosomal recessive.

[Stark-Kaeser type scapulo-peroneal amyotrophy of neurogenic origin. Study of a familial case]. / Amyotrophie scapulo-péronière d'origine neurogène type Stark-Kaeser. Etude d'une observation familiale.

BACKGROUND: There are several types of the rare syndrome, scapuloperoneal atrophy; the report deals with a familial case of the Stark-Kaeser type. CASE REPORT: A 16 year-old Tunisian boy was admitted for "steppage" gait. His mother had distal myoatrophy of four limbs and pes cavus. His sister, aged 8 years, also had pes cavus. She had no tendon reflexes and electromyography showed evidence of muscular denervation with normal nerve conduction velocity. The "steppage" gait in our patient began when he was 6 years old. When he was examined at 16 years, there were bilateral atrophy of the sternocleidomastoid muscle, and atrophy of the scapular girdle and the peroneal muscles with loss of tendon reflexes; there was no sensory involvement. Nerve conduction velocity was normal and electromyography showed fibrillation and pseudomyotonia potentials. Creatine kinase activities were moderately increased. Muscle biopsy showed significant neurogenic type changes. CONCLUSION: This patient has a Stark-Kaeser type spinal amyotrophy, a well-individualized entity due to progressive degeneration of the anterior horn cells.

[Erythermalgia: a rare vascular acrosyndrome]. / L'érythermalgie, acrosyndrome vasculaire rare.

A case of erythermalgia with arterial hypertension that appeared in a 13 year-old boy is described. This condition led to a loss of weight of 10 kg within one month. None of the diseases known as a cause of this rare condition was found. Clinical manifestations were only improved when extremities were placed in cold water: treatment with pizotifene was also effective suggesting the role of serotonine in the mechanism of the crises.

[Early severe spinal lesions in Bourneville's tuberous sclerosis]. / Atteinte rachidienne précoce et sévère au cours d'une sclérose tubéreuse de Bourneville.

An exceptional case of tuberous sclerosis with marked extensive lesion of the spine in the first year of life is reported. This lesion required orthopedic treatment at the age of 3 years and surgery at the age of 6 years.

[Nesidioblastosis. Apropos of 12 new cases]. / La nésidioblastose. A propos de deux nouvelles observations.

Two new cases of diffuse hyperplasia of the pancreas are reported. This infrequent condition is caused by intermittent and variable insulin hypersecretion. The hyperinsulinism is responsible for severe, lasting and intractable hypoglycemia that causes seizures and mental retardation. Onset usually occurs in the neonatal period. The diagnosis of hyperinsulinism rests on four criteria: the presence of increased insulin levels in the face of hypoglycemia, the low urinary excretion of ketone bodies during hypoglycemic episodes, the need for more than 15/mg/kg/min glucose to maintain the serum glucose level above 2 mmol/l, and a positive response to glucagon. The topographic diagnosis is often disappointing. Medical treatment of the hypoglycemia with diazoxide is a transient measure. Subtotal pancreatectomy is indispensable. Postoperative results are variable. Insulin deficiency diabetes mellitus is common and unusual in that insulin induces an exaggerated response. Recovery can be observed. If hypoglycemia recurs, diazoxide is often effective.