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?
A 6 year old child presents with a history of recurrent headaches. The neurological examination is unremarkable except for seven brown macules on the skin that vary in diameter from 1 to 2 cm. Clinical examination reveals several freckles in the axilla and the inguinal region. What is the most probably underlying condition?
A 6 year old child presents with unilateral headache that affects the left side of his head and face. His left eye is red and he scores 7/10 on pain assessment. The headache develops suddenly and unexpectedly after he returns from school. He has a history of six such episodes this year. Which of the following is the most probable diagnosis?
A 6 year old child presents with a history of headaches that usually appear in the evening. The episodes started 6 months ago and the pain presents on both sides of the head. He perceives it as a tightť feeling. His overall health is normal and he admits to be able to continue his daily activities regardless of the pain. Which of the following is the most probable diagnosis?
An 8 year old male presents with a history of progressive weakness. He finds it harder to climb stairs or stand from a sitting position. Medical history reveals he received all his vaccinations and had chickenpox 5 years ago. Family history reveals that the father of his mother had a similar condition but died from an accident at 32 years of age. Clinical examination reveals normal cranial nerve function as well as cognitive and mental functions. He also has a normal height. However, although he has normal tone and reflexes in all his limbs, he experiences proximal weakness in his legs and arms. No muscle wasting is identified. Sensory functions are normal. What is the most probable diagnosis?
An 8 year old male is brought by the paramedics to the emergency department after having an episode of generalised tonic-clonic seizures. The seizures started at 10:55. The paramedics gave him buccal midazolam at 11:04 and waited for the seizures to end, until 11:06. Afterwards, they gave him oxygen via face mask and set up a venous line. His blood glucose at that moment was 5.2 mmol/L and he remained unconscious during the whole trip to the hospital. The paramedics arrived at the emergency department at 11:16 and you observe that he has a patent airway and a good air entry. His RR is 12 and his O2 saturation is 98% on 10L O2. His heart rate is 122 bpm and his CRT is 2 seconds. At 11:19, you observe that the child is not responsive to pain and he starts experiencing subtle but persistent jerking movements of his jaw and left upper limb. You notice that the child’s pupils are deviated to the right and are bilaterally constricted. It’s 11:20. What should you do next?
A 2-year and 10 months-old-girl presents to the outpatient clinic with delayed acquisition of speech and developmental delay. She babbles but does not speak any identifiable words. Her receptive language is relatively preserved but she is severely delayed in all developmental domains and is not yet walking. On examination, she is an excitable girl who laughs frequently and is keen to crawl around the room and engage in social interaction. Her eye contact is good. She makes flapping movements of the hands when she is excited. Her purposeful upper limb movements are rather ataxic. What is the most likely explanation for this child’s speech and language delay?
A hyperkinetic gait is most likely associated with which condition?
A 15-year-old boy presents with a concern that he is the shortest in his class, and his voice has not ‘broken’ yet. A thorough examination reveals that his sexual development is within the normal range, and he is reassured that puberty occurs at different times for everyone. Which of the following cells in the testes secrete testosterone?
A 13-year-old girl presents with a rash in her lower limbs. The rash appeared a few days after an upper respiratory infection and was associated with persistent haematuria. Renal biopsy revealed immunoglobulin G (IgG) glomerular immune deposits. What is the most probable diagnosis?