SYSTEM

                       INVESTIGATION

                 FINDING

Skin

Biopsy        H&E

                      Frozen section  for  Sudan Black/Oil Red O

                      Electron Microscopy

Vacuolation of basal layer

Positivity for lipid vacuoles

Cytoplasmic lipid vacuoles  not surrounded by a limiting membrane in KCs, fibroblasts pericytes, mast cells and epidermal LCs.

Liver

LFT

USG

Liver Biopsy

Electron Microscopy

MRE

Raised liver enzymes

Hepatomegaly

Expansion of portal tracts by fibrous tissue,mononuclear cells, micro and macro-vesicular steatosis of hepatocytes with sudan black and oil red O positivity.

Lipid droplets of homogenous appearance and low electron density.

Recently developed noninvasive alternative to liver biopsy

Muscle

 Creatine kinase (CK-MM/CK-MB) AST, ALT,LDH

Electrophysiological studies-NCS and EMG

Muscle biopsy Routine

                         Frozen

                         Electron microscopy

Elevated levels

Brief duration, small amplitude motor units, increased recruitment

Fiber size variations & vacuolations  in Type I fibers with lipid droplets demonstrated by oil red O staining & on EM

CNS

Developmental assessment

EEG

CT/MRI-

Low IQ

Microcephalus,  diffuse cortical atrophy

Eye

Slit lamp examination

Fundus examination

Cataract, strabismus, nystagmus, ptosis, retinal dysfunction

ENT

BERA, Audiometry

Sensorineural reafness

Cardiac

ECG-

ECHO-

T wave changes

Aortic insufficiency,cardiomyopathy

Others

Lipid Profile

GIT - Mucosal biopsy

Renal function tests/X ray wrists*

Hyperlipidemia

Lipid deposition  in lamina propria and rectal epithelium

Renal failure, broadening, cupping, fraying of lower ends of radius & ulna.