Concluded Case

6 year old Muslim child male brought to A suburb paediatric clinic for minor illness of fever,lethargy and vomitting..parents concerned about repeated seizures in the past for the past 3-4 years..and noted to be associated hypoglycaemia ...specifically during minor illnesses..have multiple hospitalisation .. but no specific diagnosis.. He presents to me yesterday for the 1st timetime..Temp 101f HR 100 this wt enlarge for age.BP 100/70..Benign systemic exam.. Random Blood Sugar/Dextostix 100. Discussion of management and possible diagnoses are welcome from professional colleagues for tickling our brain .

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Concluded answer
It is a case of fatty acid metabolic disorder,MCAD. An autosomal recessive disorder..clinical presentation is typical...minor illnesses can precipitate hypoglycemia.
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Minor illness....hypoglycemia.......seizures..... ......think of metabolic cause.. get Tandom Mass Spectrometry. Bed side do blood glucose, urine routine and ketones, blood ammonia, lactic acid, urea,creatinine, uric acid, lipid profile.
Agree with u sir
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Fat acid metabolic disorder to be kept in mind
Thank you doctor
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Febrile seizure...
Sir we can term febrile seizure only tfrom 5 to 60months..then it becomes seizure disorder
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Otherwise well only developping hypoglycemia when glycogen store deplete While fasting over and above 12 hours.. While having minor illness..leaves me to think about metabollic disorders of neoglucogenesis..like fat metabollism.. Like medium chain faatty acid oxidation disorders...one stands out in my mind.. MCAD...Aceyl cornzyme defficiency.. Causing non ketotic hypoglycemic syndrome.These are autosomal recessive transmitted...25%are affected..Need Genetic counselling...Insulinomas..nasedeoblastosis are D/D..But hypoglycia occurs regardless of illnessess..occur where mere fasting for 8-12 hours not neccessory...MCAD occure late than formal Inborn errors of metabolism.Metabollic Acidosis is almost dictum except like urea cycle disorder. Thanx for ur comments.
Please get a CT brain and awake EEG for atleast 30 min ... control n manage fever with antipryetics... check cbc hba1c esr kft and lft. Let's reconvene when you have CT and EEG of the child. Also please discuss the number of episodes he gets in amonth/week
Hypoglycic seizures can cause morbidity.. CT will not provide any info for the aetiology for recurrent hypoglycia during minor illness resulting in seizures...HbA1C does not help because here it is not Juvenile Diabetes on Insulin to worry about insulin causing Hyoglycemia.EEG... not of any help..it is secondary seizure to hypoglycemia. Here Hypoglycia is due to exhausted glycogen storage as occures on decreased Intake over hours as in minor illness specially with vomitting and failure of oxidation of Medium chain fatty acids by Acyl coenzyme oxidase as back up for exausted Liver glycogen ...an inborn Metabollic disease by name MCAD.
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It is a case of fatty acid metabolic disorder,MCAD. An autosomal recessive disorder..clinical presentation is typical...minor illnesses can precipitate hypoglycemia.
Seizure disorder.. EEG and MRI needed for further diagnosis and treatment.
EEG /MRI have no role in this case..The cause for hypoglycemia need to be traced.. Simply it is simply hypoglycemia causing seizure..cause for hypoglycemia MCAD.. Treatment is preventing hypoglycemia.. by by providing glucose by PO/IV during these tivial illnesses where decreased intake can not back up exhausting glycogen Stores of liver...since it is metabollic inborn error...for life time.
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