Familial Psychomotor Delay of an Uncommon Cause: Type II Congenital Methemoglobinemia.

Methemoglobinemia is due to oxidization of divalent ferro-iron of hemoglobin to ferri-iron of methemoglobin (MetHb) which is incapable of transferring oxygen to tissues. This disease may be acquired by intoxication with oxidizing agents or inherited with a mutation of CYB5R3, the gene coding for the methemoglobin reductase or cytochrome B5 reductase 3 responsible for the reduction of MetHb to hemoglobin. We report the case of 2 sisters aged respectively of 15 and 8 months. They were born to a second-degree consanguineous marriage with a history of precocious and unexplained deaths in 3 relatives. Both sisters presented neurological features including psychomotor retardation, microcephaly, and axial hypotonia. Cerebral magnetic resonance imaging revealed cerebral atrophy in both cases associated with hypoplasia of the corpus callosum in the younger child. The association of neurological disability, cyanosis, and hypoxemia prompted a search for methemoglobinemia, with MetHB levels respectively of 26% and 15.8%in the 2 sisters. Initial treatment was based on methylene blue, then ascorbic acid. The genetic study revealed a c.463+8G>C mutation of CYB5R3 confirming the diagnosis of methemoglobinemia type II. The diagnosis of methemoglobinemia, although rare, should be considered in the presence of psychomotor retardation with cyanosis and subacute onset hypoxemia, especially in the presence of a family history.

Imported malaria in adults: about a case of cerebral malaria.

Background: Malaria is the first parasitic infection endemic in the world caused by parasites species of Plasmodium. Cerebral malaria (CM) is a rapidly progressive and severe form of Plasmodium falciparum infection, characterized by a greater accumulation of red blood cells parasitized by Plasmodium falciparum in the brain. The diagnosis of malaria is usually made in living patients from a blood sample taken in the course of a fever on return from an endemic country, whereas CM, often associated with fatal outcomes even in treated subjects, is usually diagnosed at autopsy. Case presentation: We present the case of a 36-year-old man who died a few days after returning from a business trip to the Ivory Coast. As a result of an unclear cause of death, a medicolegal autopsy was ordered. Autopsy findings revealed massive congestion and edema of the brain with no other macroscopic abnormalities at organ gross examination. Histology and laboratory tests were conducted revealing a Plasmodium falciparum infection, with numerous parasitized erythrocytes containing dots of hemozoin pigment (malaria pigment) in all examined brain sections and all other organs. Death was attributed to cerebral malaria with multiple organ failure. Conclusions: This report summarizes several features for the diagnosis of malaria and how postmortem investigations, as well as histology and laboratory diagnosis, may lead to a retrospective diagnosis of a fatal complicated form with cerebral involvement.

Interstitial cystitis: elements of diagnosis and place of histopathological examination. About 16 cases.

BACKGROUND: Interstitial cystitis (IC) is a rare disease, of difficult diagnosis. The diagnostic utility of histopathological examination of bladder biopsy remains controversial. AIM: We conducted a retrospective study to assess the frequency of interstitial cystitis, to analyze its clinical presentation and the data from the paraclinical examinations. We discuss the steps and criteria of diagnosis, as well as the place of histopathological examination for diagnosis. METHODS: Sixteen patients diagnosed with IC were followed in the Urology Department of the Sahloul University Hospital between 1996 and 2013. The diagnosis was suggested by clinical history and confirmed on the basis of clinical symptoms and results of the paraclinical explorations: urodynamic assessment, cystoscopy and bladder biopsy. RESULTS: Six men (37.5%) and ten women (62.5%), with an average age of 56 years complained of pelvic pain and urination disorders for two years on average before the diagnosis. The urodynamic study found decreased bladder compliance in 13 cases and bladder instability in nine cases. Cystoscopy demonstrated inflammatory mucosa in 13 patients (81%). Histologically, the classic ulcerative form accounted for 50% of the cases. The number of mast cells was high in both the mucosa and the muscular in 12 cases, both in the classical and non-ulcerative forms. CONCLUSION: The IC remains a diagnosis of exclusion. The first line of diagnosis is patient selection based on symptoms and an exclusion of diseases with similar presentation. Vesical biopsy is useful for confirmation and classification of the disease.