Dr Joe paul, Dr Vinayan KP(Ped neuro,Dr VaishakhAnand(Ped neuro),
Dr C Jayakumar
Eighteen year old boy ,first born of a third degree consanguineous couple , with BW-of 2.5kg, uneventful antenatal , postnatal period,developmentally normal child presented with complaints of gait abnormalities noticed since 6 years of age.
Initially began as stiffness of bilateral lower limbs(Rt>Lft).
He often crosses limbs, bend knees while walking.
There was worsening of stiffness over the years.
Gradually parents report the onset of foot deformity with outward turning of the feet and was noted to trip with objects.
H/o tiptoeing was present and there was decreased clearance of the feet while walking.
No h/o twisting posturing of the limbs, diurnal variation of the symptoms or swaying while walking.
H/o slippage of slippers with awareness since last 2-3 years that forced to wear sandals with back strap.
Parents report that there is difficulty in standing up from squatting position.
But he could climb stairs unsupported. No difficulty in getting up from lying down position and can easily roll in bed.
No h/o sensory disturbances, bladder bowel involvement, cranial nerve involvement, seizures/ cognitive decline.
No h/o systemic involvement. Took some indigenous medications.
Differentials
Friedrichs ataxia,
Tethered cord syndrome,
Amyotrophic lateral sclerosis,
Spastic diplegia
Herediatary spastic paraplegia were considered.
On examination he had elongated face, plano-valgus deformity, bilateral knee and ankle contractures.
CNS examination revealed bilateral lower limb spasticity, brisk reflexes and scissoring of gait.
Blood routines were suggestive of low Hb. Serum Homocysteine, Vit B12, Copper and folate were sent and report awaited.
Pattern shift visually evoked potential showed mid prolonged P100 latencies. Nerve conduction study was normal.
Fundus examination revealed mild temporal pallor.
MRI Brain and Spine done elsewhere were suggestive of thinned out spinal cord.
After the investigation Physical medicine consultation sought and gait therapy was initiated.
Clinical hematology consultation for low Hb and blood investigations were advised along with stool occult blood, which were sent and detailed reports awaited. Overall clinical picture was suggestive of Hereditary spastic paraplegia.
Genetic investigations were planned, but parents want to sent it on a later date.
He was initiated on Tab Baclofen on OPD basis which was continued.
Plan is to follow up this child on OPD basis and plan further management based on his clinical course.
Hereditary spastic paraplegia refers to a group of familial diseases that are characterized progressive degeneration of the corticospinal tracts.
Clinically, they present with lower limb spasticity and weakness.
It was initially referred to as Strumpell-Lorrain disease.
Genetic classification includes autosomal dominant, autosomal recessive and X-linked forms. Although primarily considered as disorder of long tract spinal cord axons, the neuropathology of many types of HSP involves additional components of the central and peripheral nervous system, including abnormalities of shorter axons in the cerebellum and corpus callosum, lower motor neurons, peripheral nerves and myelin.
The diagnosis of HSP is based upon the presence of characteristic clinical manifestations(gait impairment with leg spasticity and weakness, often associated with urinary urgency), a family history of similar disorder, and the exclusion of acquired cause of progressive spastic paraparesis.
Identification of a pathogenic variant in anSpastic paraplegia gene ( SPG ) molecular genetic testing confirms the diagnosis. There is no disease modifying treatment for HSP. The goal of symptomatic treatment is to improve mobility, increase range of motion, and relieve the discomfort associated with spasticity.
Take home message- All gait abnormalities at any age should be extensively evaluated and genetic tests should also be done if needed.