A 15-year-old boy was brought by his mother due to his recent clumsy behaviour. She observes that he has an increased tendency to trip over while running. On examination, his calves were relatively slim, and the soles of his feet were arched. Ankle dorsiflexors were noted to be weak, and the deep tendon reflexes were absent. What is the most probable diagnosis?
A 15-year-old boy presents to the emergency with vomiting and acute central abdominal pain. On examination, the abdomen is tense and tender but there is no guarding and bowel sounds are audible. Ankle and knee reflexes are absent and there is reduced power distally in his lower limbs. One of his older sisters has previously presented with a similar condition. The lab investigations are as follows: Hb 10 g/dlMean corpuscular volume (MCV): 65 flPlatelets: 170Blood film basophilic stipplingUrinary δ-ALA (delta-aminolaevulinic acid): 100 mmol/24 hrs (normal range 8-53)What is the most likely diagnosis?
A 14-year-old boy arrives at the clinic with difficulty walking and foot drop. On examination, there is weakness in dorsiflexion and eversion of the right foot. A small area of sensory loss over the dorsum of the right foot is also present. Which of the following is the most likely diagnosis?
A 16-year-old girl is brought to the emergency by her parents who describe what seems to be an episode of generalized tonic-clonic seizures, after she came home from an all-night party around 6 am. Her father has epilepsy and one of her cousins sometimes has episodes of blank spells. Neurological examination shows no abnormalities. Which of the following diagnosis is most likely in this case?
A 15-year-old girl arrives at the hospital complaining of resting tremors in both arms. Ataxia and dysarthria are also observed along with occasional involuntary grimacing of the face. The patient is most likely suffering from which of the following?
A 16-year-old girl is brought to the emergency by her parents who report that she has had multiple collapsing episodes over the past week. Each time she would collapse with the eyes shut and regain consciousness after 2 to 5 min with general weakness. The collapse is not followed by a post ictal state. The patient feels well and normal between these episodes. Which of the following is the most likely diagnosis?
A 2-week-old infant is suffering from hydrocephalus that has developed secondary to congenital spina bifida. Where in the brain is the CSF formed?
A 5 month old baby presents with irritability, fever, high pitched cry, and pustular discharge from both ears. He has been feeding poorly for the last two days. Clinical examination reveals a full fontanelle but no other neurological signs. The doctor performs a lumbar puncture, took a blood sample, and started him on IV antibiotics. What would be the expected CSF picture for bacterial meningitis?
A 5 month old girl was admitted to the emergency department with reduced movement of her right arm. History reveals she was born at term, 4.5 kg and via natural delivery. Her mother reports her head was stuck for a while before she was fully delivered. Postnatal examination revealed reduced movement of her right arm as well but was thought to improve over time. The baby cannot sit and her right arm is flaccid, internally rotated, adducted, and extended. The reflexes are absent in the right arm. Which of the following investigations would provide the most useful information?
A 5 week old boy presents with a history of jerky movements involving both upper and lower limbs. The parents admit that this happens 2-3 times during sleep, without waking him up. He feeds well and doesn’t seem to cry more than normally. He was a term baby, born without any perinatal complications. The neurological examination turns out normal. Parents worry he has seizures as they have a 3 year old nephew with epilepsy. What is the most probable diagnosis?