Abnormal Movements, Falls, and Cognitive Decline in an Adolescent Boy (Questions)

A 13-year-old boy, born out of 3rd degree consanguinity, presented with abnormal body movements occurring for the past 2 years. The abnormal movements were in the form of frequent, brief, purposeless, asymmetric movements of the upper limbs, insidious in onset, progressing gradually. These movements were absent during sleep. The parents reported that the child showed progressive clumsiness in tasks, frequent falls, poor scholastic performance, and incomprehensible speech over the last 2 years, associated with drooling of saliva and even difficulty in chewing food. Frequent falls were associated with shock-like jerky body movements. There was no history of prolonged fever, weight loss, headache, altered sensorium, blurring of vision, squint, drooping of eyelids, facial deviation, difficulty in swallowing, choking, dysphonia, nasal intonation of voice, or urinary or stool incontinence. There was no history of contact with tuberculosis. There was no history of jaundice, abdominal distension, or bleeding manifestations. Antenatal, natal, and postnatal periods were uneventful. He achieved developmental milestones appropriately and was immunized as per national schedule. There was no history of similar complaints in the family. His 8-year-old male sibling was asymptomatic. On examination, he was conscious with vitals within normal limits. There was no pallor, icterus, cyanosis, clubbing, edema, or lymphadenopathy. His weight and height were between the 25th and 50th centiles for age as per the Indian Academy of Pediatrics growth charts. His eyes demonstrated bilateral brown colored deposits around the periphery of the cornea on torchlight examination [Image 1a]; rest of the head-to-toe examination was unremarkable with no neurocutaneous markers or facial dysmorphism.Image 1: (a) torch light examination of the eye, (b) slit lamp examination of the eye, (c and d) magnetic resonance imaging of the brain, T2 FLAIR imagesExamination of cranial nerves was normal. Motor system examination demonstrated mild hypotonia in bilateral upper and lower limbs. His hand demonstrated an inability to maintain a voluntary hand grip; milkmaid’s sign and the pronator sign were positive. The power of all groups of muscles was >4/5, and the bulk of the muscles were preserved symmetrically. Deep-tendon reflexes were normal and plantar reflex was flexor bilaterally. The speech was monotonous, without rhythm, with sentences starting and stopping abruptly. He had a wide-based gait with repeated falls. He was also noticed to have abnormal movements [Video 1]. He underwent a slit-lamp examination of the eye [Image 1b]. Abdominal examination was unremarkable with no hepatosplenomegaly. The cardio-respiratory system was also unremarkable. {"href":"Single Video Player","role":"media-player-id","content-type":"play-in-place","position":"float","orientation":"portrait","label":"Video 1","caption":"","object-id":[{"pub-id-type":"doi","id":""},{"pub-id-type":"other","content-type":"media-stream-id","id":"1_xq3zod3i"},{"pub-id-type":"other","content-type":"media-source","id":"Kaltura"}]} He underwent blood tests, urine tests, and an ultrasound scan of the abdomen. Complete blood counts, coagulation profile, and liver function tests were within normal limits. He had low serum ceruloplasmin levels (3 mg/dL; normal, 20–35 mg/dL) and raised urinary copper levels (314 μg/24 h; normal, <40 μg/24 h). Magnetic resonance imaging of the brain showed characteristic findings [Image 1c and d]. Questions: Mention the findings in the eye shown in Image 1a (torch light examination) and Image 1b (slit-light examination)? What is the diagnosis in this patient? What does the video demonstrate [Video 1]? Describe the findings in the magnetic resonance imaging of the brain in Image 1c and d What is the treatment of the condition? Answers to the questions may be mailed by readers at the following E-mail: [email protected]. The answers of the questions along with the name and affiliation of the sender of the first correct response will be published in the subsequent issue of IPCaRes, in the section of Clinical Quiz (Answers).Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form, the legal guardian has given his consent for images and other clinical information to be reported in the journal. The guardian understands that names and initials will not be published and due efforts will be made to conceal patient identity, but anonymity cannot be guaranteed. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.