No abstract

Adrenoleukodystrophy (ALD) is a peroxisomal disorder characterized by the accumulation of saturated very long chain fatty acids (VLCFA) in plasma, various tissues of body and central nervous system. It causes demyelination and adrenocortical insuciency. High levels of very long chain fatty acids are found in tissues and body fluids, resulting from their impaired ?-oxidation in the peroxisomes. The most common form of ALD is an X-linked disorder with various presentations which is caused by mutations in the ABCD1 gene located on Xq28. The gene encodes a transmembrane transporter involved in the importation of very long chain fatty acids into peroxisomes. The phenotypic presentations are highly variable, which may lead to delayed recognition and misdiagnosis, as attention deficit and/or hyperactivity disorder in boys or multiple sclerosis in adults. The most common clinical picture is of a degenerative neurologic disorder appearing in childhood or adolescence and progressing to severe dementia and deterioration of vision, hearing, speech, and gait and death occur within a few years. Many patients have evidence of adrenal insufficiency at the time of neurologic presentation. Hydrocortisone and mineralocorticoid are necessary to treat adrenal insufficiency. High doses of hydrocortisone preoperatively and during recovery are needed for surgery and other stressful illnesses in affected individuals.Here, we described two patients with childhood onset ALD with clinical and laboratory features to illustrate the wide clinical variability of this condition.Bangladesh Med J. 2015 Sep; 44 (3): 168-171

This cross-sectional study was carried out at the department of Pediatric Neurology, Institute of Pediatric Neurodisorder and Autism, Bangabandhu Sheikh Mujib Medical University, Dhaka with the aim to assess the relationship between gross motor function and MRI findings in children with cerebral palsy. The duration of the study was 12 months. All the cerebral palsy cases who met the selection criteria were enrolled. Detailed history taking and physical examination was done. The gross motor function of all cases was evaluated according to Gross Motor Function Classification System- Expanded and Revised (GMECS-E and R). Magnetic resonance imaging of brain was done in all enrolled patients and reports were evaluated. MRI findings were classified as maldevelopment, cortical and subcortical gray matter lesion, periventricular white matter injury, basal ganglia lesion, normal and other findings. A total of 45 children with cerebral palsy aged between 2 to 12 years were included in this study. Mean age of the children was 4.73 (+3.17) years. Male were 31 and female were 14 in number. Functionally majority patients were in GMFCS level IV (26.7%) and level V (20%). MRI findings were abnormal in 35 (77.78%) cases. Most common abnormal MRI finding was cortical and subcortical grey matter lesions 22 (48.9%). This study revealed that cortical and subcortical gray matter lesions were significantly associated with higher level of GMFCS (IV-V) (P=0.038) and maldevelopment of brain were also significantly associated with higher level of GMFCS (P=0.01). Normal MRI findings had significant association with mild to moderate GMFCS level (I-III) (P=0.012). From this study significant relationship was found between gross motor function and MRI of brain findings in children with cerebral palsy. Bangabandhu Sheikh Mujib Medical University Journal 2022;15(4):8-15

Background: Neurocutaneous syndromes (NCS) represent a group of central nervous system disorders associated with lesion in the skin, eye and possibly other visceral organs. Various cutaneous manifestations usually appear early in life, progress with time but neurological features generally present at a later age. The objective of this study is to observe the frequency of pattern and presentation of various forms of neurocutaneous syndrome. Methodology: A descriptive cross sectional study was conducted at department of Paediatric Neurology of Bangabandhu Sheikh Mujib Medical University(BSMMU), Dhaka, Bangladesh from March, 2015 to February, 2016. Children (3month to 8 years) with NCS, diagnosed on the basis of standard diagnostic criteria for different NCS were included and compared. Results: Among of 27 children,16 (59.26%) boys, 09(40.74%) girls with neurocutaneous syndrome, mean age of presentation was 38.67±18.57 (range 3 month to 84 months). The various forms of NCS observed were Tuberous sclerosis complex (48.14%), Ataxia telangiectasia (29.62%), Sturge Weber Syndrome (14.81%), Neurofibromatosis1(3.7%) and Linear nevus syndrome (3.7%). In Tuberous sclerosis complex , most common feature was facial angiofibroma ( 92.30%), Hypomelanotic macule (76.90%), Shagreen patch (76.90%). In Ataxia telangiectasia, commonest presentation was ataxia 8(100%) followed by ocular telangiectasia (62.50%). In Sturge weber syndrome, commonest presentation was facial capillary malformation (100%). Neurofibromatosis patient presented with café-au-lait spot (100%). Common systemic manifestations of NCS were found in TSC and those were multicystic kidney disease (30.76%), autism spectrum disorder (15.38%) & attention deficit hyperactivity disorder (7.69%). Conclusion: In our study, the commonest neuro-cutaneous syndrome is tuberous sclerosis complex and it’s cutaneous manifestation is facial angiofibroma Bangladesh J Child Health 2019; VOL 43 (1) :15-20