Neuronal ceroid lipofuscinosis in Qatar: report of a novel mutation in ceroid-lipofuscinosis, neuronal 5 in the Arab population.

This study sought to genetically define the first family diagnosed with neuronal ceroid lipofuscinosis from Qatar. Onset was in late infancy (3 years), and sequencing in the affected children revealed a novel homozygous c.613C>T change in exon 3 of ceroid-lipofuscinosis, neuronal 5, corresponding to a missense mutation of a conserved amino acid, p.Pro205Ser. The clinical manifestations of the disease in this family largely resemble those of ceroid-lipofuscinosis, neuronal 5 disease, variant late infantile that was first described in Finland and include mental decline, visual deterioration, ataxia, and epileptic seizures. This description of ceroid-lipofuscinosis, neuronal 5 disease in an Arab family adds to the clinical and molecular diversity of the variant late-infantile neuronal ceroid lipofuscinoses, which were originally reported in Europe and are increasingly recognized in other populations.

A common mutation in the CBS gene explains a high incidence of homocystinuria in the Qatari population.

We report the results of a study carried out to delineate genetic and epidemiological aspects of homocystinuria in the Qatari population. Sixty-four patients with homocystinuria (37 males, 27 females, age 1 to 29 years) from 31 nuclear families were ascertained over a period of more than four years. The incidence of homocystinuria in Qatar was calculated to be > or =1:3000, the highest in the world known so far. All patients in whom data were available were vitamin B6-nonresponsive. Molecular studies were performed in all patients. All 53 patients from tribe M and all three patients from tribe K were homozygous for the mutation c.1006C>T (p.R336C) in the CBS gene, with an additional seven patients resulting from mixed marriages between tribe M and tribe K. A single patient from tribe S was homozygous for mutation c.700G>A (p.D234N) in the CBS gene. Both mutations have been previously reported but involve hypermutable CpG dinculeotides and may be recurrent mutations in the Qatari population. The results of this study illustrate a strong founder effect causing a high prevalence of an autosomal recessive disease in a highly consanguineous Arabian population. Molecular neonatal screening may be suitable for early detection of homocystinuria in this population.

Epidemiology of neonatal meningitis in Qatar.

OBJECTIVE: Neonatal meningitis is responsible for thousands of neonatal deaths annually all over the world. Our study was conducted to determine the epidemiology, management and best preventive measures for neonatal meningitis in Qatar. METHODS: A retrospective study reviewed the records of bacterial meningitis patients under the age of one month. The study was carried out at Hamad Medical Hospital, the only hospital that provides health care at Qatar and the study period was between January 1998 to December 2000. RESULTS: Thirteen patients were included. Sixty percent of patients had early onset meningitis. Causative organisms were group B Streptococcus pneumoniae, Klebsiella pneumonia, Pseudomonas species, Neisseria meningitidis, Staphylococcus epidermidis and Flavibacterium meningococcus septicum. A bacterial resistance to the usual combination of ampicillin and gentamicin were noticed (as initial treatment before culture sensitivity results), which affected negatively on some patients. Complications of cerebral palsy, mental retardation and epilepsy occurred in 3 patients (23%). None of the patients died during the study period. CONCLUSION: Emphasis is placed on the importance of correct early diagnosis and appropriate antibiotic therapy. It is suggested that the identification and appropriate treatment of any maternal bacterial infection is an important measure in preventing neonatal sepsis and meningitis.

Epidemiology of neonatal meningitis in Qatar.

OBJECTIVE: Neonatal meningitis is responsible for thousands of neonatal deaths annually all over the world. Our study was conducted to determine the epidemiology, management and best preventive measures for neonatal meningitis in Qatar. METHODS: A retrospective study reviewed the records of bacterial meningitis patients under the age of one month. The study was carried out at Hamad Medical Hospital, the only hospital that provides health care at Qatar and the study period was between January 1998 to December 2000. RESULTS: Thirteen patients were included. Sixty percent of patients had early onset meningitis. Causative organisms were group B Streptococcus pneumoniae, Klebsiella pneumonia, Pseudomonas species, Neisseria meningitidis, Staphylococcus epidermidis and Flavibacterium meningococcus septicum. A bacterial resistance to the usual combination of ampicillin and gentamicin were noticed (as initial treatment before culture sensitivity results), which affected negatively on some patients. Complications of cerebral palsy, mental retardation and epilepsy occurred in 3 patients (23%). None of the patients died during the study period. CONCLUSION: Emphasis is placed on the importance of correct early diagnosis and appropriate antibiotic therapy. It is suggested that the identification and appropriate treatment of any maternal bacterial infection is an important measure in preventing neonatal sepsis and meningitis.