THG03-001
A 12-year-old boy presented with learning concerns and epilepsy. Below are the images of the child.
a. What are the clinical findings depicted here?
b. What is the most likely clinical diagnosis?
c. What is the characteristic neuroimaging feature of this condition?
d. What is the drug of choice for myoclonic seizures associated with this condition?
e. What drugs are recently being tried for treatment of this condition?
Answer
| a. | (i) Adenoma sebaceum and (ii) Ash leaf macules |
| b. | Tuberous sclerosis |
| c. | Cortical tubers seen in MRI brain and subependymal giant cell astrocytomas (SEGAs) |
| d. | Vigabatrin is the treatment of choice for myoclonic epilepsy associated with tuberous sclerosis. |
| e. | Mammalian target of rapamycin (mTOR) inhibitors: Sirolimus and everolimus are tried for tuberous sclerosis. |
THG03-002
An 8-month-old girl was brought with complaints of not looking at faces and not crawling yet. She has repetitive head turning and body rocking when she is made to sit. She responds to mother’s voice by cooing and smiles to tickle. On examination, she has a preferential downward gaze. When you give her a rattle, she is not reaching for it although she is attentive to sounds and tries to search for it and pick. Neurologically tone is normal. Ophthalmological examination is suggestive of normal anterior segment and normal fundus. Her magnetic resonance imaging (MRI) is shown here.
a. What is the most likely clinical diagnosis? Reason out.
b. What is the MRI feature shown here?
c. What is the neonatal history that you would like to elicit?
d. What are the risk factors for the neonatal complication that leads to this condition?
Answer
| a. | Diagnosis: Social smile to voices, but not looking at faces or tracking toys. Repetitive stereotypies noted. Vision concerns are present, likely to have cerebral visual impairment. |
| b. | Parieto-occipital gliosis with prominent posterior horn of lateral ventricles. |
| c. | Symptomatic neonatal hypoglycemia—poor feeding, jitteriness, cold peripheries, low blood glucose that was documented, lethargy, and seizures on day 2 or day 3. |
| d. | Preterm babies, infant of diabetic mothers, small for gestational age babies, children with hypoxic-ischemic encephalopathy (HIE), and hyperinsulinemia conditions can predispose to hypoglycemia. |
THG03-003
Image of an infant is given below. Answer the questions that follow.
a. What is the cognitive milestone depicted here?
b. According to Piaget, during which stage of development do children attain this milestone?
c. What is the age at which child attains this milestone?
Answer
| a. | Object permanence |
| b. | Sensorimotor stage: 0–2 years |
| c. | Emerges by 9–12 months |
THG03-004
A 3-month-old infant was brought with a history of passing stool only once in 7–8 days. He was the third born to his parents, term child, weighing 3.2 kg. He cried at birth. He is on breastfeeds and has been immunized in the nearby primary health center. Mother mentioned that he rarely cries when hungry and she has noted his voice to be hoarse. On asking about development history, his mother mentioned that he has not attained head control yet and he occasionally smiles to himself. His current weight is 6 kg and his length is 52 cm. His image is shown below.
a. What are the red flag signs from the history and what are the clinical features?
b. What is the most likely diagnosis?
c. How will you confirm the diagnosis?
d. What specific test will suggest an etiological diagnosis?
e. What is the best option available to prevent the devastating sequelae of this condition?
Answer
| a. | Coarse facies, dull appearance, hoarse cry, delayed attainment of head control, umbilical hernia and decreased length but normal weight |
| b. | Congenital hypothyroidism |
| c. | Elevated thyroid-stimulating hormone (TSH) with low T4/free T4 hormones |
| d. | Radionuclide scan (technetium 99m pertechnetate thyroid scintigraphy) and ultrasonography of neck |
| e. | Newborn thyroid screening and early institution of thyroxine |
THG03-005
A 7-year-old boy brought with history of instability in walking and difficulty in writing increased over the past 3 years. Child also has recurrent respiratory infections. Clinical image and MRI are shown here.
a. What are the findings depicted?
b. What is the most likely diagnosis? Justify by reasoning out.
c. What is the inheritance pattern of this disease?
d. What biochemical findings will be suggestive of the clinical diagnosis?
Answer
a. • Figure A: Ocular telangiectasia
| • | Figure B: Cerebellar atrophy on MRI |
| b. | Ataxia telangiectasia. Ataxia Telangiectasia. Children will have telangiectasia in the eyes, progressive ataxia with recurrent infections and may also have oculomotor apraxia. MRI—diffuse cerebellar atrophy |
| c. | Autosomal recessive |
| d. | Immunoglobulin A (IgA) levels will be low and α-fetoprotein will be elevated, which will help us increase the index of suspicion of the diagnosis. |
THG03-006
A 2-year-old child is brought with concerns of not being able to walk independently and associated focal epilepsy. MRI is shown here.
a. Outline the MRI findings.
b. What is the most likely clinical picture of cerebral palsy in this child? On which side are you likely to have findings?
c. What neonatal history you will ask for?
Answer
| a. | Left cortical atrophy involving the part of the frontal, temporal, and parietal lobes predominantly with cystic encephalomalacia changes |
| b. | Right-sided hemiplegic cerebral palsy |
| c. | Perinatal stroke, intracranial bleed—vitamin K deficiency bleed, thrombocytopenia, etc. |
THG03-007
A 1-year-old child is brought with complaints of not holding neck yet and not reaching for objects. On examination, you notice that child has abnormal twisting movements of hands and legs, and arching of back intermittently. MRI is shown here.
a. Describe the MRI findings.
b. What is the most likely diagnosis? What is the likely clinical image?
c. What neonatal history you will ask for?
d. What important comorbid condition would you evaluate for?
Answer
| a. | Bilateral symmetrical T2 hyperintensities in basal ganglia |
| b. | Dyskinetic cerebral palsy secondary to kernicterus sequelae |
| c. | Neonatal jaundice with history of kernicterus, exchange blood transfusion, phototherapy, and blood group of baby and mother |
| d. | Auditory neuropathy spectrum disorder/hearing impairment |
THG03-008
A 3-year-old boy Raja is brought with concerns not being able to sit and not being able to stand. He has associated difficulty in feeding and he is on nasogastric tube feeds to prevent aspiration. His parents have felt that he has always been floppy when picked up. On examination, his tone is reduced and deep tendon reflexes are not elicitable. His clinical image is depicted here. Answer the following questions.
a. What is the clinical finding shown? What else you will look for in the oral cavity examination?
b. What is the most likely diagnosis? Substantiate your most likely diagnosis.
c. Name some drugs that have been developed for the management of this condition.
Answer
| a. | Head lag on pull to sit. Look for tongue fasciculation |
| b. | Floppy child with absent deep tendon reflexes—feeding difficulty—spinal muscular atrophy is likely. |
| c. | Nusinersen (antisense oligonucleotide), risdiplam (mRNA splicing modifier), and onasemnogene abeparvovec (Zolgensma)—(adeno-associated virus 9 vector-based gene therapy). |
THG03-009
A 2-year-old child is brought with concerns of not being able to walk without support. He was delivered as a 30-weeker with a birth weight of 1.3 kg and had a neonatal intensive care unit (ICU) care for around 4 weeks at birth. His clinical image is given here.
c. What is the likely MRI finding?
Answer
a. i. Delayed motor milestone—delayed walking
| ii. | Scissoring of legs is depicted. |
b. i. Spastic bilateral cerebral palsy—spastic diplegia
| ii. | History of prematurity, very low birth weight with prolonged neonatal ICU care could have been the contributory risk factors |
| c. | Periventricular leukomalacia with squaring of ventricles |
THG03-010
Karyotype image of mother of a child with Down syndrome is shown here. Answer the following questions.
a. Interpret the karyogram. What are the findings?
b. What is the recurrence risk of Down syndrome in subsequent pregnancies of the mother?
c. What are the other genetic variants of Down syndrome?
Answer
| a. | Mother’s karyotype shows translocated 21 chromosome attached to the other copy of 21 chromosome—deceptively appearing as a single chromosome. The karyotype shows that mother is a carrier of a balanced translocation on her 21 chromosome. She will be phenotypically normal but the recurrence risk for Down syndrome t(21,21) in her offsprings will be 100%. |
| b. | Recurrence risk for Down syndrome in subsequent pregnancies is 100%. |
| c. | Trisomy 21, translocation involving chromosomes 13, 14, 15, and chromosome 21, mosaicism |
THG03-011
A 3-year-old child with autism presented with concerns of severe pain on moving left knee and refusal to walk for the past 3 days. He is on regular therapy. He is nonverbal and is attending a day care center. He drinks milk and eats plain boiled rice. He does not take any vegetables, fruits, or nonvegetarian diet. There are no external bruises on examination. The X-ray is shown here.
a. What are the radiological findings?
b. What is the most likely clinical diagnosis? Substantiate.
c. How will you manage the child?
Answer
| a. | Diffuse osteopenia, thinning of the cortices, lucencies at metaphysis (Trummerfeld zone), small corner fractures (Pelkan’s spur), and dense zone of provisional calcification in the physis (white line of Frenkel) and periosteal reaction due to subperiosteal hemorrhage may be seen. |
| b. | Scurvy due to severe avoidant and restrictive food intake disorder is the likely cause. Child totally avoids fruits and vegetables. The diet pattern of child may predispose for micronutrient deficiencies—vitamin C deficiency is one. |
| c. | Treatment with vitamin C (100–200 mg/day) and assessing response, diet modification |
THG03-012
Q3.12
a. Name the condition in which this drug is used.
b. What class of drug does this belong to?
c. Name two adverse events that you will monitor for when giving this medication.
d. What are the other drugs that can be used instead of this drug for the condition?
Answer
| a. | Attention-deficit hyperactivity disorder |
| b. | Central nervous system (CNS) stimulants |
| c. | Appetite suppression leading to growth faltering, sleep disturbances, and hypertension. |
| d. | Stimulant group—amphetamine, dexamphetamine, and clonidine (alpha 2 receptor stimulation); non-stimulant—atomoxetine |
THG03-013
See the image given here.
a. What is this simple bedside test that can be done for assessing the cognition of a child called?
b. How will you calculate the mental age of the child that has drawn image?
c. Beyond what age can this test be used?
Answer
| a. | Goodenough Draw-a-Man test |
| b. | Six parts drawn: |
| • | Mental age is 3 + (6/4) = 4.5 years |
| • | Mental age = 3 + (number of parts/4) |
| c. | This can be used only for child beyond 3 years of age. |
THG03-014
See the image here.
a. What is this simple developmental screening tool?
b. What is the interpretation of the 17-month-old child who has been screened using the tool?
c. Name other developmental screening tools that can be used.
Answer
| a. | Trivandrum developmental screening chart (TDSC) |
| b. | All items whose horizontal bars that are completely to the left of vertical age line the child must have passed. Here child has failed to attain two items—standing up on furniture and walk with help. So, the TDSC screening shows concerns. This child must be referred for further evaluation. |
| c. | Ages and Stages questionnaire, Denver developmental screening test, and Parents’ Evaluation of Developmental Status (PEDS). |
THG03-015
Look at the images depicted here.
a. What developmental milestone is being demonstrated here?
b. By what age this milestone emerges?
c. When attainment of this milestone is delayed, which neurodevelopmental disorder in children would you consider and evaluate for?
Answer
| a. | Joint attention—ability of the child to direct attention of others to a common focus or ability of the child to understand other’s attempts to direct his attention to a common focus. |
| b. | Emerges by 9–12 months |
| c. | When joint attention is delayed in a toddler, we must think of autism spectrum disorder. |
THG03-016
A child, 6 years of age, was brought with concerns of speech delay and losing some language skills and behavioral changes in the form of increasing hyperactivity for the past 2 years. He was indicating toilet needs by 3.5 years which he has stopped doing for the past 1 year. On examination, head circumference was normal. He had coarse facies with thick eyebrows but no hepatosplenomegaly. The vision was normal. He had bilateral conductive hearing loss. He had a systolic ejection click with an ejection systolic murmur. Neurologically his tone and deep tendon reflexes were normal. Clinical image is shown here.
a. What is the most likely diagnosis? Justify the diagnosis.
b. Which enzyme is deficient in the most common subtype of this condition?
c. What are the X-ray findings that you can see?
Answer
| a. | Sanfilippo syndrome/mucopolysaccharidosis (MPS) type 3 |
| b. | Mucopolysaccharidosis 3A is the most common—heparan N-sulfatase is deficient. |
| c. | Dysostosis multiplex features: Skull–dolichocephaly, thick cortex, abnormal J-shaped sella; chest X-ray—oar-shaped ribs; spine—rounded cod-shaped vertebra with anterior beaking; and Hand—bullet-shaped phalanges and proximally pointed, short, and thick metacarpals. |
THG03-017
An 8-year-old boy was brought with concerns of hyperactivity, poor scholastic performance, and speech delay. He does not get along with peers during play and is not yet fully toilet trained. He had no perinatal risk factors. On examination, he has prominent ears, and prominent jaw; joint hyperlaxity, but he was normal neurologically.
a. What is the most likely diagnosis? Justify the diagnosis.
b. What genetic test would you order to confirm the diagnosis? What would be the genetic defect seen?
c. What are the other features that you would look for on clinical examination of genitalia in older boys with the condition?
Answer
| a. | Fragile X syndrome—speech delay, hyperactivity with intellectual disability with prominent ears and prominent jaw. |
| b. | Polymerase chain reaction (PCR) to detect the cytosine-guanine-guanine (CGG) repeats in FMR1 gene—more than 200 CGG repeats is full mutation. |
| c. | Macro-orchidism is seen. |
THG03-018
Assess the gross motor and fine motor development of this 3-year-old child.
Answer
to 3.20
| Age | 3 years | | | 4 years | | | 5 years | | |
| Ask | Pedals tricycle | | | Catch bounced ball | | | Skipping | | |
| Look | | | | | | | | | |
| • | Goes up stairs without holding railing—alternate feet on each step | | • | Uses scissors to cut circle pattern | | • | Walks downstairs holding railing—alternate feet on each step | |
| • | Pours water from one glass to another | | • | Throws ball overhand to >10 ft | | • | Jumps backward | |
| | | | | | | | | |
| Do | | | | | | | | | |
| • | Balance on one foot to count of three | | • | Hops on one foot | | • | Balance on one foot to count of 10 | |
| • | Copies circle | | • | Copies square | | • | Copies triangle | |
| • | Imitates bridge of three cubes | | • | Imitates gate with cubes | | • | Writes first name | |
| | | | • | Draw a man with four | | • | Imitates stairs with cubes | |
| 
| 
| • | Draw a man with 8-10 parts | |
| | | |
THG03-019
Assess the gross motor and fine motor development of this 4-year-old child.
Answer
No model answer in source material.
THG03-020
Assess the gross motor and fine motor development of this 5-year-old child.
Answer
No model answer in source material.
THG03-021
Assess the motor, language, and social development of this 9-month-old infant.
Answer
to 3.23
| Age | 9 months | | | 1 year | | | 2 years | | |
| Ask | Starts crawling on hands and knees | | | | | | | | |
| • | Starts walking with support—also takes few independent steps | | • | Kicks a ball | |
| • | Finger feeds self | | • | Pulls of loose pants | |
| • | Calls people using kinship words—at least amma and appa | | • | Parallel play with peers | |
| | | | • | Uses two-word sentences | |
| | | |
| Look | | | | | | | | | |
| • | Pulls to stand | | • | Points to get desired object | | • | Walks downstairs holding railing—both feet on one step at a time | |
| • | Bell—shakes and rings a bell | | • | Recognizes name of two objects and looks when named—fan, light, AC, TV, etc. | | • | Two-word sentences | |
| • | Responds to name call well | | • | Waves bye-bye | | • | Points to 5-10 body parts | |
| | | | | | | | | |
| Do | | | | | | | | | |
| • | Bangs two cubes together | | • | Holds crayon and scribbles with demonstration with cylindrical grasp | | • | Draws horizontal line with a pronator digital grasp | |
| • | Uncovers toy hidden by a cloth | | | | | | | |
| • | Enjoys peek-a- boo play | | 
| • | Follows to look when said "Oh.. look at that.." | | • | Removes hat | | • | Points to five pictures, names pictures. | |
| | | | • | Lifts box lid to find a toy | | • | Builds a tower of six | |
| | | | | | |
THG03-022
Assess the motor, language, and social development of this 1-year-old infant.
Answer
No model answer in source material.
THG03-023
Assess the motor, language, and social development of this 2-year-old toddler.
Answer
No model answer in source material.
THG03-024
A 20-month-old boy was brought with concerns of speech and interaction. He still has not started speaking well. He does not respond to name calls. He does not seem to look at the face of anyone who speaks to him. He does not regard or copy when you wave to him. You wind up a toy in front of him and he immediately pays attention to the winding noise and the subsequent actions of the toy. He picks up the toy but does not seem to share the joy with his mother. After the toy stops playing, he shakes it and shouts. Mostly he plays alone. He attained age-appropriate developmental milestone in all other domains. His vision and hearing were reported normal. A portion of the MCHAT-R questionnaire of this child is shown here.
a. What are the red flags in development that are evident?
b. What is the most likely cause of speech delay in this child?
c. Score the MCHAT of this child based on above responses.
d. What is the next appropriate action based on the above MCHAT score?
e. MCHAT as a screening tool is approved for what age group?
Answer
| a. | He has a delay in social and language developmental domains. Red flags in development: |
| • | Speech delay |
| • | Not responding to name calls |
| • | Poor eye contact |
| • | Not showing interest in others and tends to play alone |
| b. | Autism spectrum disorder |
| c. | The MCHAT-R scoring—for all questions except 2, 5, and 12—score 1 if response is No. |
| • | For questions 2 and 5—score 1 if response is Yes. |
| • | In this scenario: |
| ◆ | 1, 3, 6, 7, 8, 9, and 10—responses are No—score 7. |
| ◆ | 2 and 5—responses are Yes—score 2. |
| ◆ | Total score—9: Categorized as high risk for autism spectrum disorder |
| d. | Next appropriate action is based on the MCHAT score. |
| • | Decisions based on MCHAT score after administering all 20 item |
| ◆ | MCHAT >8—refer for early intervention |
| ◆ | MCHAT score 3–7—administer MCHAT-R—follow-up tool |
| ◆ | MCHAT score 0–2—low risk—routine developmental surveillance as per protocol |
| • | In this scenario: MCHAT score >8—refer for early intervention |
| e. | 16–30 months |
THG03-025
A 9-year-old boy was brought with concerns of poor scholastic performance. He had to repeat class 3 twice. Mother says he is lazy and has “poor memory”. He has a lot of spelling errors. Teacher complains that he would answer orally, but in examinations, he does not bring out what he knows. Of late, he dislikes going to school and is becoming defiant to mother. He started speaking only after 2 years of age but no other developmental concerns. He is good in sports, drawing, and dance. He is independent in his activities of daily living and can ride a bicycle, helps mother and father with their chores. He is cheerful and social. He remembers all relatives’ birthdays and wishes them. On examination, he is a calm child. His vision and hearing is good, and he is neurologically normal. He reads with reluctance and takes time to read and pronounce words. During dictation of words, he finds it difficult to spell and makes mistakes.
a. What is the most likely diagnosis? Substantiate your most likely diagnosis.
b. What is the pathological basis for this problem?
c. What is the characteristic functional MRI pattern you would see if you were to subject this child to imaging?
Answer
| a. | Specific learning disability: Dyslexia is likely. To substantiate the likely diagnosis—reading difficulty manifesting as poor scholastic performance; adaptive skills are good and nonacademic strengths; social skills are good—school refusal and defiant behavior with caregivers over time; and past history of speech delay. |
| b. | Deficits in phonologic processing—inability to split the words into phonemes and process it further |
| c. | MRI features: Under activation of the posterior reading systems—left occipitotemporal and parietotemporal lobes and over activation of the left frontal lobe regions—the pattern is called dyslexia signature. |
Figure Sources
Figure of Q3.4A is from open source.
The remaining figures are from author’s personal collection.