DRESS syndrome: à propos de trois observations

Le syndrome d'hypersensibilité médicamenteuse ou Drug Rash with Eosinophilia and Systemic Symptoms (DRESS) est une toxidermie rare mais sévère. Nous rapportons trois observations de DRESS syndromes secondaires à la prise de carbamazipine dans deux cas et de salazopyrine dans un cas. Le délai moyen entre la prise médicamenteuse et la survenue du DRESS syndrome était de six semaines. Le médicament incriminé était arrêté d'une façon définitive dans tous les cas. Une corticothérapie par voie générale était instaurée chez tous les patients devant l'atteinte hépatique sévère. L'évolution était favorable avec disparation des lésions cutanées et normalisation du bilan hépatique. Le diagnostic du syndrome DRESS doit être évoqué devant un tableau associant une éruption fébrile et des signes systémiques faisant suite à une prise médicamenteuse. Laprécocité du diagnostic est fondamentale pour l'arrêt définitif des médicaments suspects. Le traitement n'est pas bien codifié mais repose actuellement sur la corticothérapie générale.Key words: Syndrome d´hypersensibilité médicamenteuse, carbamazipine, salozopyrin

West syndrome and mosaic trisomy 13: A case report

Trisomy 13, or Patau syndrome, is a rare chromosomal disorder characterized by a triad of cleft lip and palate, postaxial polydactyly, and microphthalmia, with an incidence ranging between 1/5,000 and 1/20,000 births.1 Most patients (80%) with Patau syndrome have complete trisomy 13. Mosaic trisomy 13 is very rare; it occurs in only 5% of all patients with the trisomy 13 phenotype.2 Trisomy 13 is a clinically severe entity, and 90 to 95% of patients born with this syndrome do not survive beyond one year of life. However, patients with mosaic trisomy 13 usually have longer survival and less severe phenotype compared to patients with complete trisomy 13. Malformations mainly affect midline development, with a high frequency of central nervous system involvement. The presence of central nervous system malformations is important as a predictive factor of survival.1,3 It is well known that the incidence of epilepsy is higher in children with Patau syndrome than in the general population, and West syndrome or infantile spasms have been rarely reported in these children.1,4,5 Prior to our report, there has been no case report of West syndrome associated with mosaic trisomy 13. The association of West syndrome with trisomy 13 is considered a symptomatic West syndrome because of preexisting psychomotor development delay and the poor prognosis in most of these children.6 We report here the first case of West syndrome in a girl with mosaic trisomy 13 and discuss the clinical characteristics and prognosis of this association

48XXYY Syndrome in an Adult with Type 2 Diabetes Mellitus, Unilateral Renal Aplasia, and Pigmentary Retinitis

A 45-year-old male was referred for diabetes mellitus. Clinical examination found a family history of multiple precocious deaths, strong consanguinity, personal history of seizures during childhood, small testicles, small penis, sparse body hair, long arms and legs, dysmorphic features, mental retardation, dysarthria, tremor, and mild gait ataxia. Investigations found pigmentary retinitis, metabolic syndrome, unilateral renal aplasia, and hypergonadotropic hypogonadism, and ruled out mitochondrial cytopathy and leucodystrophy. Karyotype study showed a 48XXYY chromosomal type. Renal aplasia and pigmentary retinitis have not been described in 48XXYY patients. They may be related to the chromosomal sex aneuploidy, or caused by other genetic aberrations in light of the high consanguinity rate in the patient's family

Facial cellulitis revealing choreo-acanthocytosis: A case report

We report a 62 year-old-man with facial cellulitis revealing choreo-acanthocytosis (ChAc). He showed chorea that started 20 years ago. The orofacial dyskinisia with tongue and cheek biting resulted in facial cellulitis. The peripheral blood smear revealed acanthocytosis of 25%. The overall of chorea, orofacial dyskinetic disorder, peripheral neuropathy, disturbed behavior, acanthocytosis and the atrophy of caudate nuclei was suggestive of a diagnosis of ChAc. To our knowledge no similar cases of facial cellulitis revealing choreo-acanthocytosis  (ChAc) were found in a review of the literature.Key words: Choreo-acanthocytosis, facial cellulitis, dyskinetic movement

A posteriori diagnosis of DRESS syndrome induced by diazoxide in a patient with an insulinoma: a case report and review of the literature

The Drug Rash with Eosinophilia and Systemic Symptoms (DRESS) syndrome can be potentially life-threatening. The diagnosis is sometimes difficult since the clinical manifestations may be incomplete or non-specific. Insulinoma is a rare functioning neuroendocrine tumor (NET) of the pancreas. Medical therapy may be needed when surgery is contraindicated, delayed or refused. Diazoxide is widely used to control hypoglycemia in patients with insulinoma. We report a clinical case of an insulinoma in a 85-year-old patient treated with diazoxide with a fatal outcome due to a delayed diagnosis of a DRESS syndrome. This is the first case of DRESS syndrome reported after using diazoxide for insulinoma treatment in our knowledge

DRESS syndrome: à propos de trois observations Case report Open Access

Abstract Le syndrome d'hypersensibilité médicamenteuse ou Drug Rash with Eosinophilia and Systemic Symptoms (DRESS) est une toxidermie rare mais sévère. Nous rapportons trois observations de DRESS syndromes secondaires à la prise de carbamazipine dans deux cas et de salazopyrine dans un cas. Le délai moyen entre la prise médicamenteuse et la survenue du DRESS syndrome était de six semaines. Le médicament incriminé était arrêté d'une façon définitive dans tous les cas. Une corticothérapie par voie générale était instaurée chez tous les patients devant l'atteinte hépatique sévère. L'évolution était favorable avec disparation des lésions cutanées et normalisation du bilan hépatique. Le diagnostic du syndrome DRESS doit être évoqué devant un tableau associant une éruption fébrile et des signes systémiques faisant suite à une prise médicamenteuse. La précocité du diagnostic est fondamentale pour l'arrêt définitif des médicaments suspects. Le traitement n'est pas bien codifié mais repose actuellement sur la corticothérapie générale

Pyogenic Sacroiliitis and Pyomyositis in a Patient with Systemic Lupus Erythematous

Pyogenic sacroiliitis and pyomyositis are uncommon infectious diseases and their diagnoses are often delayed. They are typically seen in children and young adults and are rare in middle-aged people especially in those affected by rheumatic diseases. We present the first case of a Staphylococcus aureus related pyogenic sacroiliitis associated with iliacus and gluteal pyomyositis occurring in a patient with systemic lupus erythematosus. Antibiotic treatment was administered for a total of 6 weeks with a total recovery. Pyogenic sacroiliitis and pyomyositis, although remaining rare events, should be remembered as severe complications in immunosuppressed patients with inflammatory diseases. Early clinical suspicion, imaging diagnosis, and adequate therapy are decisive for the satisfactory outcome