X-linked adrenoleukodystrophy: a novel mutation of abcd1 gene in a bahraini boy

Adrenoleukodystrophy [ALD] is an X-Linked recessive neurodegenerative disease that affects the brain and the adrenal glands. It presents with a wide spectrum of clinical variants. The severe childhood cerebral form of ALD is a known cause of severe disability in children that leads to early death. ABCD1 is the only gene associated with X-linked ALD. More than 1400 different mutations have been identified in the ABCD1 gene. We present a case of X-linked ALD with novel mutation. Our patient was a boy who presented with intermittent right eye exotropia, poor attention span and subsequent deterioration in hearing, vision, speech and swallowing. He had dramatic worsening of his neurological symptoms over few months. His investigations showed high serum very long chain fatty acids [VLCFA] with extensive demyelination involving bilateral parieto-occipital regions on brain MRI. His mother had an extended family history of ALD in five of her brothers with variable phenotypes ranging from the severe childhood cerebral form to the milder variant of ALD. Genetic testing revealed novel missense mutation in exon 6 of the ABCD1 gene with hemizygous ABCDl:c.l585G>T variant. The same mutation was detected in his younger asymptomatic brother. The aim of this case report is to present a familial case of childhood onset cerebral X-linked ALD with novel gene mutation in exon 6 of the ABCD1 gene

Tibial corticotomy and periosteal elevation for chronic critical lower limb ischaemia

Estimating procedure's safety, efficiency, efficacy and cost/benefit. Thirty six patients were enrolled. Preoperative demographic data, ankle systolic pressure, and magnetic resonance angiography were obtained. Early results [1st month] included skin perfusion and pain, late results involved wound healing, pain, Kelker score, procedure morbidity, patient satisfaction and quality of life. Mean age SD was 68.03 5.5, males were 23[63.9%], twenty [55.6%] patients had ankle systolic pressure 50 mmHg and 29 [80.5%] with infrainguinal disease. Within the 1st month; skin perfusion and rest pain improved in 91.7%, 86.1%, patients respectively. Magnetic resonance angiography at the 2nd month declared vascular response for all patients. By the end of 1st year 34 [94.4%] patients achieved complete wound healing, also rest pain and claudication relief occurred in 86.1% and 55.6% patients, with 20 [55.6%] patients had excellent score. Procedure morbidity was [17.7%]. Satisfaction measures at six and twelfth months were "mean SD" 7.1, 1.3, 8.7, 1.7 respectively. Twelfth month quality of life improved [overall score P = 0.05, mental health scale < 0.05 and pain/anxiety domain P < 0.001]. The procedure represents an invaluable tool to be evaluated in randomized study

case of biliary fascioliasis

Fasciola hepatica is known to cause biliary obstruction. We report on a patient with obstructive jaundice and eosinophilia. Endoscopic retrograde cholangiopancreatography [ERCP] was performed which resulted in the extraction of multiple parasites. Fascioliasis must be considered in the differential diagnosis of obstructive jaundice especially if associated with eosinophilia

Nocturnal enuresis in children with adenotonsillar upper airway obstruction

Adenotonsillar hypertrophy is the most common cause of sleep related upper airway obstruction [UAO] in childhood. Recently there is growing consensus that upper airway obstruction is a causative factor in nocturnal enuresis [NE] in many cases .So the aim of this study was to determine the relationship between nocturnal enuresis and upper airway obstruction caused by chronic adenotonsillar hypertrophy in children and the value of their surgical treatment, One hundred children suffering from symptoms of upper airway obstruction [UAO] caused by adenotonsillar hypertrophy were included in this study and divided into two groups 24 with enuresis and 76 without enuresis, Patients with organic neurological or urological causes of NE were excluded. During sleep, at the night of the day before the operation, one month and three months after the operation; arterial blood gases were measured using the Blood Gas Analyzer. Follow up was done through parental questionnaire about the degree of improvement of NE before and after surgery at first, third and sixth months after the surgery. Blood gas analysis in patients with and without NE revealed: Decrease O2 and increase CO2 saturations that were more in the group with NE. It was found that there were significant statistical improvements in the PaO2 and decrease in the PaCO2 after the operation in both groups That were also more in the group with NE. There were no significant differences between patients with or without NE as regard to 02 saturation, PaO2 and PaCO2 before and after the operation [P>.005]. Parental questionnaire in patients with NE revealed complete cure in 58.6%, 16.7% had partial improvements while no improvements in 25%. So in Conclusion the authors suggest that UAO is probably a more common etiologic factor in NE than previously recognized and appropriate number of cases improved after adenoidectomy and or tonsillectomy

Anticytogenetic effect of Vitamin C against cytogenicity of Aluminium Sulphate in mice

The induction of chromosome aberrations and sister chromatid exchanges [SCE's] by aluminum sulfate was investigated in vivo bone marrow and in vitro in spleen cell cultures of the mouse. Mice were treated orally by gavage for 1,2 and 3 weeks with 3 dose levels of aluminum sulfate 387.5, 775 and 1550 mg/kg b. wt. [1/16, 1/8, 1/4 LD50]. The samples were taken 24 hours after the last treatment. The frequency of aberrations in bone marrow and spermatocyte cells of the mouse increased by increasing the dose and the number of treatments. The concentrations [10-7 - 10-4 M] were tested for the induction of chromosome aberrations and SCE's in spleen cell cultures. Aluminum sulfate at 10-4 M caused a high frequency of metaphases with chromosome aberrations and SCE's after treatment of the spleen cell cultures for 24 hours. Concurrent administration of vitamin C [VC] at the doses 20 mg/kg b. wt.[in vivo], 5 x 10-6 and 5 x 10-5 M [in vitro] moderately minimized the genotoxic effects of aluminum sulfate in all the experiments

Adenotonsillar upper airway obstruction and nocturnal enuresis in children

Adenotonsillar hypertrophy is the most common cause of sleep related upper airway obstruction [UAO] in childhood. Recently there is growing consensus that upper airway obstruction is a causative factor in nocturnal enuresis [NE] in many cases. So the aim of this study was to determine the relationship between nocturnal enuresis and upper airway obstruction caused by chronic adenotonsillar hypertrophy in children. Also to evaluate the effect of surgery on enuretic patients with UAO caused by adenotonsilar hypertrophy. One hundred children suffering from symptoms of upper airway obstruction [UAO] caused by adenotonsillar hypertrophy were included in this study and divided into two groups 24 with enuresis and 76 without enuresis. Patients with organic neurological or urological causes of NE were excluded. During sleep, at the night of the day before the operation, one month and three months after the operation; arterial blood gases were measured using the Blood Gas Analyzer. Follow up was done through parental questionnaire about the degree of improvement of NE before and after surgery at first, third and sixth months after the surgery. Blood gas analysis in patients with and without NE revealed: Decrease O2 and increase CO2 saturations that were more in the group with NE. It was found that there were significant statistical improvements in the PaO2 and a significant decrease in the PaCO2 after the operation in both groups that were also more in the group with NE. There were no significant differences between patients with or without NE as regard to O2 saturation, PaO2 and PaCO2 before and after the operation [P>.005]. Parental questionnaire in patients with NE revealed complete cure in 58.6%, 16.7% had partial improvements while no improvements in 25%. So in Conclusion the authors suggest that UAO is probably a more common etiologic factor in NE than previously recognized and appropriate number of cases improved after adenoidectomy and or tonsillectomy