8yr boy came with Subnormal intelligence and walking difficultly... Pt was near term (born 7 d before EDD), hospital delivered with no significant perinatal event, SGA, antenatal history normal. A/t father no feeding difficulty or jaundice post nataly, first thing they noticed was child not achieving milestones in time like neck holding, sitting, speaking... ie GDD. Then he consulted various practitioners and told to be case of CP and muscle relaxants given. Pt never had convulsion. Pt started walking after 2yrs and speaking monosyllables.. at present he walk unassisted with abnormal gait keeping feet in equinus position and reply to basic question but overall low IQ, he keep smiling in bw interaction. O/e OFC 45cm, heterochromic iris, tone slightly increased, DTR brisk, plantar extensor, contractures felt at both tendoachillis with varus deformity in both knees... CT and X rays done attached. No h/o convulsion so far... Discuss ur opinions and further necessary tests....

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Dear Dr. Manish. I would like to put forward my points for yo kind consideration. 1. The child s acquiring milestones but at a SLOWER PACE so there s no question of this child having a progressive neurodegenrative disorders wher u ll expect progressive deterioration so clearly this s a STATIC ENCEPHALOPATHY (though this term s not preferred now) in other words CP. 2. When MOTOR involvement is more than Other language/social/IQ then again its favouring CP only. 3. Now the question s what s the cause of CP ? Especially when there s no perinatal insult / ante natal history suggestive of TORCH or something. So rule out CONGRNITAL BRAIN MALFORMATION leading on to CP. 4. Though clear cut CP some other disorders can present like this especially GLUTARIC ACIDURIA (do fundoscope/metabolic work up) n UREA CYCLE DEFECT due to ARGINASE DEFICIENCY (here no hyperammonemia ll be there). These two can present like spastic CP. JUST A THOUGHT. LET US KNOW THIS KID's MRI FINDING.
Same chain of thought sir... Just wanted to think DDs of CP in metabolic, genetic section...
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8 years Boy, CLINICALLY HYPERPIGMENTED PATCH RT. SIDE FACE NEAR ANGLE OF MOUTH, PERI-ORBITAL EDEMA WITH BLUEISH HUE. LOE SET OF EARS. LAUGHING FACE. DX : R/O FRAGILE --X SYNDROME. CONFIRMATION DX. BY DNA TEST.
The way you elaborate is unique.. I appreciate sir.. Get it patented... ;)
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Please do not waste money on diagnostics. It isclear he is cp/ spastic and intell disabled. Get an iq ref for spl edu. Ref to ortho for contracture and gait corr physio.
Y don't we consider adrenoleucodystroohy That's one possibilty which came to my mind Mitochondrial cytopathy is another thing which I can think of
Thanx sir.
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Developmental delay microcephaly increased tone All this points to cerebral Palsy u cn do ca pho ALP take a genetic opinion
Although no seizure, Contracture present... But no perinatal insult.. Can we think of angelman or any metabolic??
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Here is dev delay with spasticity with low set ears, gait abnormality., eyelid edema...possibilities are CP due to unnoticed perinatal event...however ther is prominent low set ears and face has to b matched wid parents face..if its dysmorphhism then long arm 22 and 7p del are possibilities. ..but looking at CT report ther is corona hyperintensities which can result in spasticity...MRI can help in better way...CGH wil b last to rule out del synd..
Spinocerebellar ataxia 1 also a dd
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Is there history of consanguinity? Appears to be genetic disorder. Patient has dystonia in addition to spasticity. Smile is dystonic. There is dystonic posturing of limbs. CT shows tiny calcifications, I don't think they are hemorrhages. Other DD is TORCH infections. MRI will help.
Yes sir thinking of TORCH, angelman, metabolic ds.... But no seizure... So hesitating fr FISH which cost 7500.. No consanguinity. Gait is abnormal, contributed by equinus posture d/t contractures, not typical ataxic gait but keep one hand up mostly while walk but wide base with truncal balancing.
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Torch IU infection could b a cause ,difficult to decipher but MRST SNH3 VBG S LACTATE worthwhile.Also OT PT PTA n chromosomal studies for Angelman n fragile X with retinal exam.
It can be MLD or any neurometabolic disorder. Get one MRI done. Facies are looking like angelman syndrome. What was the head circumference at birth
What is the MRI report. I think angelman testing can be offered if MRI normal
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This child has most clinical features fitting in to Angleman syndrome.... uniparental disomy.FISH/chromosomal sequencing..
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