A 4yr old female 2nd born to 3rd degree consanguineous parents,child is Dev.normal as wit other peers upto 2yr..later child had a febrile@ episode wit seizures admitted at higher centre n treated for 1month..mother noticed dat d child ws not able to hold neck n sit n identity parents on 7day of hospitalisation..since den child is bedridden..no improvement in milestones..h/o similar presentation in younger female sibling aged 2yrs..Even she lost her attained milestones after an seizure episode at 1 n hlf yr..both children brought to me with tone feeding n sleep disturbances..mri of elder child along wit met.workup done at higher centre Are posted here..kindly suggest d further work up n counseling..tq. In advns@Dr. Manish Verma@Dr. Brahmananda Merugu @Dr. Sree Harsha @Dr. Rahman Khan @Dr. Ramesh Dutt Gautam

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Dear @Dr. Shrekanth Debbata & @Dr. Manish Verma. In this kind of cases we need to approach clinically first then interpret investigations. We need more history. I agree with MLD and KRABBE. but the thing is both are white matter DBD. When I read thru yo history I felt more of GREY DBD and EPILEPTIC ENCEPHALOPATHY versus. GREY MATTER DBD did strike my mind first. So we need more details. For MLD - Ataxia, bulbar involvement, CN involvement, hearing and visual disturbance will be there. KRABBES - will also have visual disturbance. Very important is KRABBE is one DISEASE where diagnostic imaging modality of choice ll be CT rather than MRI so it's difficult to comment on MRI. MLD s also out as u have enzyme assays and also the MRI s not so typical. Until I get some more history, for me it's just EPILEPTIC ENCEPHALOPATHY. N I would like to do an URGENT EEG. Kindly update further details.
3,4,6,7 n 8 cn normal..bulbar involvement +..dtr brisk ..spasticity with power 3/5 in all limbs..spine n cranium normal
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MELAS MITOCHONDRIAL ENCEPHALOPATHY WITH LACTIC ACIDOSIS Must be ruled out, 10 years back same history presents female child as age of 5 was admitted at my hospital afterwards her younger sister developed same illness, unfortunately both were dead one at age 14 and another 7 years, IS THERE SKIN DISEASES also associated?? , DEFINITELY NEURODEGENRATIVE DISORDER as you told in females, if other sibling is boy and if he is normal then this is definitely MATERNAL TRANSFERRING MITOCHONDRIAL DISEASE
@Dr. Shrekanth Debbata Fron the presentation definietely it a case of NDD As we r aware its a huge umbrella with different diagnosis better to classify. Ib rhis case there is is both Grey matter- Seizures .cognitive impairment and white matter- Loss of milestones- involvemnt. From the investigations only cong lactic acidosis ruled out So do ABG AMMONIA KETONES TMS Urine organic acids Kindly update after investigations
Tq sir
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Neurodegenerative disorder With this MRI dd is merachromatic leukodystrophy and Krabbe ds... As there seems no arylsulphatase defi so chances of MLD less... Or require repeat or further workup. Unfortunately no cure in both cases...
As Krabbe ds is possibility here so If feasible do complete metabolic screening...
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Adrenoluecodystropy
@Dr. Shrekanth Debbata. Thanks for tagging me. 4 years Child, CONSANGUINITY + DEVELOPMENTAL MILESTONES HISTORY NORMAL TILL 2 YEARS. FEBRILE SEIZURES, LOST CONTROL OF NECK HOLDING. SIMILAR HISTORY IN SIBLING. WITH THE ABOVE HISTORY, OF BOTH SIBLINGS, Investigations: MRI BRAIN, ARYLSULPHATE, B12, & TSH. WITH THE ABOVE HISTORY & INVESTIGATIONS: IMPRESSION : THIS CASE IS "NUERO-DEGENERATIVE" DISORDER. **MRS (MAGNETIC RESONANCE SPECTROSCOPY) IS RECOMMENDED, TO KNOW THE METABOLIC CHANGES IN BRAIN. Better to add VOXEL (multy) & to study NEURONAL MARKERS LIKE : MAA,CREATINE, & OTHERS MARKERS TOO, TO ARRIVE @ THE DIAGNOSIS. DX : METACHROMIC LEUKODYSTROPHY.(MLD) "MLD" -- RUNS IN FAMILY. D/D : MELAS. RX : AED'S, PHYSIOTHERAPY, SUPPORTIVE THERAPY. IMPORTANT IN MANAGEMENT IS GENETIC COUNSELLING FOR BOTH THE PARENTS. WORK UP WITH MS.
Tq sir
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it is a very typical case of MLD with characteristic MRI with the sparing of subcortical U fibres and characteristic age of onset. get enzyme assay repeated. even if they are normal still the possibility of MLD remains due to the mutation in different gene which is saposin B. thanks. please let me know the result if you go ahead with further testing
Leukodystrophies There are several differentials Metabolic work up needed
MLD and krabbes are the likely possibilities
Dr debbata, r you reached on diagnosis

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