Review Note

Last Update: 06/09/2024 07:06 PM

Current Deck: SLS Cards::10. Pediatric growth and nutrition

New Card (Unpublished)

Currently Published Content

Front

Back

No published tags.

Pending Suggestions

Field Change Suggestions:

Front

What are appropriate investigations to order in an infant with undifferentiated hypotonia?

Back

Labs

1) BMP (extended lytes, Cr, urea) --> r/u metabolic diseases
1) Liver enzymes and LFTs --> metabolic or storage diseases
1/2) Blood gas analysis --> acid-base imbalances
1) TSH --> hypothyroidism
1) Lactate and pyruvate --> mitochondrial disorders
1/2) CK --> muscular dystrophy
1) Ammonia --> urea cycle disorder

Genetic testing

2) Karyotype --> e.g. Down
2) Microarray --> submicroscopic chromosomal abnormalities
2) Specific genetic tests, e.g.

SMN1 --> spinal muscular atrophy
FMR1 --> fragile X syndrome

Neuroimaging

2) MRI brain and spine --> structural, malformations, evidence of hypoxic-ischemic injury

Electrophysiology

2) EMG --> integrity and function of peripheral nerves
2) EEG (if seizures) --> neurological electrochemical disorder

3) Muscle and nerve biopsy (if myopathy or neuropathy suspected or other tests inconclusive)