Case No 5: Hereditary Sensory Motor Neuropathy - Axonal & Demyelinating.

Omkar Shetye is a 8 Years old boy with hereditary sensori – motor neuropathy with deafness and has one elder sister who is very similarly affected. He was seen at our center in Nov’98 and started on Neuro G-Therapy. One month after therapy few NCV improvements were noted.

Omkar had a normal birth history and no major illness. His present complaints were; inability to stand or walk without support, deaf - mutism, stubborn, hyperactive with violent temper tantrums & bedwetting. He achieved neck holding at 8th month and was sitting by 1 year. He is able to crawl very fast (knees and hands) since 3 years. Now, he can momentarily stand without support and walk with support for 5-7 minutes. Sitting on a chair or crossed leg on the floor is easy but squatting is not possible. His gait is broad based with foot drop with valgus deformity. He is able to feed himself and manage his clothes. Good at imitation and mock play. Communication by gestures and noises. Severe bilateral hearing loss.

On Examination: Head circumference 50.5 cm. Marked squint both eyes. No abnormal facies or dermo - glyphics. Pes planus, feet are narrow and small, 3rd toe of both feet hypotrophic. Scratch marks and injuries all over lower limb and upper limb- suggesting a sensory component.

CNS Examination : Alert Cooperative. Smiles, imitates action. Understanding/ Intelligence is fair if due concessions are made for his deafness and no special training.

Cranial Nerves : squint present, VIIIn-bilaterally profound deafness, Vision good. Other cranial nerves normal. No significant wasting. Calf girth Left = 23 cm. & Right =22.5 cm. Mild hypotonia in right upper limb and marked hypotonia in both lower limbs. Power-UL Grade IV(-) & Grade III in hips and knee flexors / extensors & Grade 0/l in dorsiflexors of foot, Deep jerks not elicitable. Babinski negative. Sensory system difficult to test owing to deaf - dumb status. Objectively reduced sensation to fine touch and pain in lower limbs noted. No Cerebellar or extrapyramidal signs.

Investigations Before Neuro G-Therapy :

1. November 1994 : Diffuse sensory neuropathy.
2. November 1994 : BERA- Profound hearing loss.
3. August 1998 : Nerve biopsy – diffuse degeneration of axons and myelin of thicker nerve fibres. (Tissue not well fixed.)
4. November 1998 : NCV – General Sensory-motor neuropathy axonal & demyelination.
5. November 1998 : CPK/Hemogram/LFT-Normal.

Two months after Neuro G-Therapy 1. January 1999 : NCV – The right common peroneal showed improvement in amplitude but some slowing of conduction. The median sensory nerve showed improved latency and low amplitude as compared with the November ’98 study.