Browsing by Author "Jayamanne, C."

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Chiari malformation type 1 presenting as unilateral progressive foot drop: a case report and review of literature
(BioMed Central, 2018) Jayamanne, C.; Fernando, L.; Mettananda, S.
BACKGROUND: Foot drop is a disabling clinical condition with multiplicity of causes, which requires detailed evaluation to identify the exact aetiology. Here, we report an extremely rare cause of foot drop in a child, which if not recognized early, could lead to multiple complications. CASE PRESENTATION: A 6-year-old girl presented with difficulty in walking and left sided foot droop for1-month duration. On examination she had reduced muscle power in dorsiflexors and plantar flexors and diminished knee and absent ankle jerk in the left side. Sensory loss was noted in L4 and L5 dermatomes on the left side. Superficial abdominal reflex was absent on the left side while preserved in the right. Nerve conduction and electromyography revealed nerve root or spinal cord cause for the foot drop. These results prompted ordering MRI spine and brain which revealed Chiari malformation type-1 with holocord syrinx extending from the cervicomedullary junction to conus medullaris. CONCLUSIONS: This case highlights the importance of considering broad differential diagnosis for foot drop and value of the complete neurological examination including superficial reflexes in arriving at a diagnosis. Prompt diagnosis helped to early neurosurgical referral and intervention which is an important prognostic factor.
Smith-Lemli-Opitz syndrome presenting as acute adrenal crisis in a child: a case report
(BioMed Central, 2018) Jayamanne, C.; Sandamal, S.; Jayasundara, K.; Saranavananthan, M.; Mettananda, S.
BACKGROUND: Smith-Lemli-Opitz syndrome is a rare autosomal recessive disorder of cholesterol biosynthesis which is characterized by multiple congenital malformations and global developmental delay. Here we report the case of a 3-year-old, previously undiagnosed, child with Smith-Lemli-Opitz syndrome presenting with acute adrenal crisis, which is an extremely rare and atypical presentation of this disease. CASE PRESENTATION: A 3-year-old Sri Lankan Sinhalese boy without evidence of infection presented with circulatory collapse. He had a normal perinatal period; however, his early infancy was complicated by poor feeding, episodes of loose stools, failure to thrive, and several episodes of unexplained drowsiness. His weight, height, and occipitofrontal circumference were well below the third percentile. He had soft dysmorphic features that included microcephaly, bitemporal narrowing, upward slanting eyes, epicanthal folds, partial ptosis, broad nasal bridge, low set posteriorly rotated ears, high arched palate, and short neck. Marked hyperpigmentation was noted in perioral, buccal, and palmar areas. His pulses were rapid and low in volume and his systolic blood pressure was low. Initial resuscitation was performed by administering multiple crystalloid fluid boluses. A septic screen was negative. His blood glucose and serum bicarbonate levels were low and serum electrolytes revealed hyponatremia with hyperkalemia. Serum spot cortisol level was low normal and 17-hydroxyprogesterone level was low. Diagnosis of Smith-Lemli-Opitz syndrome and associated adrenal crisis was made based on clinical and biochemical features. Intravenously administered hydrocortisone was commenced to which he showed a marked clinical response. CONCLUSIONS: This case describes a rare and atypical presentation of Smith-Lemli-Opitz syndrome and highlights the importance of making early and accurate syndromic diagnoses in children with dysmorphism to avoid sudden and life-threatening complications.