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A 3½ year old with hypotonia, undescended testis and altered sensorium.
A 3½ year old with hypotonia, undescended testis and altered sensorium. 26/05/2009 https://www.pediatriconcall.com/Journal/images/journal_cover.jpg
Dr Ira Shah.
Medical Sciences Department, Pediatric Oncall, Mumbai.

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Shah I. A 3 and a half years old with hypotonia, undescended testis and altered sensorium. Pediatr Oncall J. 2007;4: 53.

Address for Correspondence
Medical Sciences Department, Pediatric Oncall, Mumbai

Clinical Problem :
A 3½ year old boy presented with decreased intake of food, since 3 days, multiple episodes of vomiting since 1 day and fever and altered sensorium. Patient is a known case of bronchial asthma on inhaler therapy since 3 months. He underwent a right orchidopexy 1 month back. He had a generalized tonic clonic convulsion at 2½ years of age following an episode of loose motion. At that time, he was investigated with MRI brain that showed hypoglycemic insults, a urine aminoacidogram and plasma aminoacidogram which were normal and he had elevated liver enzymes with positive hepatitis A IgM. He had been on Phenytoin therapy since then. His birth history and immunization are normal. He had delayed motor development (standing achieved at 1½ years, walking at 2 years) but now his catch up milestones and social and speech milestones are normal. There was initially frequent falls on walking but now the frequency of falls has decreased. On examination, his vital parameters were normal. He was drowsy and has hypotonia in all the limbs. The deep tendon reflexes are normal. There are no meningeal signs, focal neurological deficit or other systemic abnormalities. He recovered in 24 hours but he continues to have hypotonia.
His baseline investigations showed hypoglycemia (RBS = 6 mg %) with normal electrolytes and normal liver enzymes and ammonia. He had elevated WBC count with normal platelets and hemoglobin. Peripheral smear for malarial parasite was negative. Blood gases after correction of dehydration showed metabolic acidosis [pH = 7.295, HCO3 = 13.2 mmoL/L]. His serum creatinine phosphokinase is normal.
 
Question :
What is the diagnosis?
 
Expert Opinion :
Expert’s opinion: - Dr Ira Shah

This child has delayed motor milestones to begin with initially along with frequent falls and also a right undescended testis. This may all be related to his hypotonia. Since the child has caught up his milestones, it may suggest benign hypotonia of infancy. However, the child had an episode of convulsion with raised liver enzymes at 2½ years of age and a second episode of hypoglycemia, acidosis (after correction of dehydration) and encephalopathy at 3½ years of age. Also an MRI done at 2½ years of age is suggestive of repeated hypoglycemic insults. This child does not have hepatomegaly thus causes such as glycogen storage disorder and galactosemia seem unlikely.
If we take into consideration, the hypotonia and hypoglycemia with 2 episodes of CNS involvement, one may consider an inborn error of metabolism affecting the brain. liver and muscle. A differential diagnosis such as Reye’s syndrome, Urea cycle defects, Fatty Acid Oxidation defect and Lactic Acidosis then comes into the picture. This child did not have high ammonia and so Reye’s and urea cycle defect seems unlikely. One would then have to workup from the point of fatty acid oxidation defect and Lactic Acidosis. This child was worked up accordingly and he did have a high lactate [32 mg/dl (Normal upto 22 mg/dl)]. A muscle biopsy done showed disarrayed muscle fibres but mitochondria were normal and a repeat review of MRI plates showed same picture. His urine organic acids were normal. Thus he was diagnosed as a case of Lactic Acidosis. He was then started on multivitamin supplements (Riboflavin Thiamine and Carnitine).
 
Funding:  None  
 
Conflict of Interest: None
 
DOI No. : 
 
Cite this article as :
Shah I. A 3 and a half years old with hypotonia, undescended testis and altered sensorium. Pediatr Oncall J. 2007;4: 53.
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