Respiratory Alkalosis in Neurodegenerative Disorder
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SCIENTIFIC LETTER
Respiratory Alkalosis in Neurodegenerative Disorder Karthika IK 1 & Soumya Mishra 1 & Amit Kumar Satapathy 1 Received: 9 February 2020 / Accepted: 31 March 2020 # Dr. K C Chaudhuri Foundation 2020
To the Editor: Neuroregressive or neurodegenerative disorders with progressive deterioration of neurological functions, without specific grey or white matter changes on neuroimaging, are a diagnostic dilemma for clinicians. At this point, careful analysis of blood gas may help in diagnosing a rare, but treatable metabolic disorder. Here, we have 3 such children who presented to us with neuroregression; two of them were siblings, where we suspected a rare urea cycle disorder by looking at blood gas and taking careful history. Case 1: A nine-year-old boy, born to non-consanguineous parents, apparently well till 3 y of age, developed fever and generalized tonic clonic seizures- 2 episodes followed by prolonged encephalopathic state for 4 to 5 d, was treated with IV antibiotics and IV fluids outside. The child started to develop progressive difficulty in walking and wasting of both lower limbs since then. He had repeated episodes of seizures with encephalopathy which were precipitated by fever and required hospitalization. He was on multiple antiepileptics including levetiracetam and phenytoin. There was no history of any adverse perinatal event. He presented at our emergency in status epilepticus, preceding a history of fever, cough and cold. At admission, the child had poor sensorium and respiratory distress requiring mechanical ventilation. There were no papilledema or any other feature suggestive of raise intracranial pressure. CSF study done was normal. Initially he was managed with intravenous fluid and antibiotics. Subsequently the child was weaned from mechanical ventilation. Repeated Blood gas analysis of child revealed chronic respiratory alkalosis and metabolic acidosis, with pH of 7.44, pCO 2 19.9 mEq/L and HCO3 13 mEq/L. In view of neuroregression with intermittent encephalopathy with persistent respiratory alkalosis, possibility of hyperammonemia secondary to urea cycle disorder was considered. Serum ammonia level was 153
* Amit Kumar Satapathy [email protected] 1
Department of Pediatrics, All India Institute of Medical Sciences, Bhubaneswar, Odisha 751019, India
micromol/L (normal range 90–30 micromol/L). Since the child had spastic diplegia, mild hepatomegaly and neuroregression with mild to moderate elevated ammonia levels, hyperargininemia among urea cycle disorders was considered, which was later confirmed with tandem mass spectrometry (Arginine levels were 287.65 micromol/L). He was started on sodium benzoate and protein restricted diet. Currently the child is on regular follow up without any further episode of encephalopathy and seizure. Case 2 & 3: A 10-y-old girl, apparently well till 4 y of age started to develop difficulty in walking and regression of already attained milestones. There was no history of any fever or vomiting or intermittent episode of encephalopath
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