Case report :Hereditary Spastic Paraplegia :A Clinical diagnosis

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Dr N.C.Sudarshan ( PG resident )
RAMA MEDICAL COLLEGE HOSPITAL & RESEARCH CENTRE, HAPUR

Abstract Spastic paraplegia causes Case report Conclusion

Hereditary spastic paraplegia (HSP) is a rare
neurodegenerative disorder with the predominant clinical 16 year old male patient, resident of Gulawati with
Any patient presenting long-term progressive pyramidal
manifestation of spasticity in the lower extremities. HSP is education of 4thstandard, with right dominant dexterity
syndrome of the lower limbs should elicit a diagnosis of
categorised based on inheritance, the phenotypic moderately built well nourished presented to Rama
HSP by just using and following appropriate basic history
characters, and the mode of molecular pathophysiology, hospital OPD with complaints of weakness in bilateral
taking and proper bedside systemic and neurological
with frequent degeneration in the axon of cervical and lower limbs insidious in onset progressive in nature from
examination and ruling out other probable causes of
thoracic spinal cord’s lateral region, comprising the proximal to distal since two years associated with
spastic paraplegia. Final diagnosis is made based on the
corticospinal routes. The prevalence ranges from 0.1 to 9.6 paraparesis in extension attitude of limbs with spastic
identification of a genomic mutation causing
subjects per 100,000 reported around the globe. gait. Patient is youngest of 8 children (4 male and 4
degeneration of the corticospinal tract by genetic testing
Here we describe an adolescent male with female) a product of a consanguineous marriage. His
, NCV studies and Neuroimaging of brain and spinal cord.
progressive lower limb weakness showing brother second son also suffers from similar symptoms
Thus physicians can use this basic awareness of the
bilateral upper motor neuron signs of and is currently physically disabled on wheelchair.
disorder for making Earlier diagnosis which would lead
hyperreflexia , hypertonia ,clonus with *Patient gave no history of preceding fever or rash or
to earlier rehabilitation measures to preserve patient
progressive spastic paraplegia. Knowledge of seizures or joint pain or any meningeal signs with
mobility.
these features with appropriate medical negative kernig and brudzinski signs or any post vaccine
history and bedside neurological examination reaction ruling out Infectious and autoimmune causes
helps in early diagnosis leading to early *Patient had no diurnal variation of weakness or
rehabilitation which then later can be proved fatiguability ruling out NMJ disorder
with neuroimaging and genetic testing *Patient had no autonomic symptoms with intact bowel
HSP Pathophysiology and and bladder with no band like sensation at umblical level
Management with no sensory loss at all root levels with straight leg
raising test negative ruling out Compressive spinal cord Refrences
lesions and Transverse Myelitis
Introduction *Patient gave history of progressive worsening of
paraplegia incidious in onset with no history of trauma
or exposure to toxins ruling out Thrombosis, Emboli, 1.Shribman, S.; Reid, E.; Crosby, A.H.; Houlden, H.; Warner, T.T.
Traumatic or Toxin exposed causes Hereditary spastic paraplegia: From diagnosis to emerging
Hereditary spastic paraplegias (HSPs) are a myriad of *Patient showed no nystagamus, normal finger nose therapeutic approaches. Lancet Neurol. 2019, 18, 1136–1146. [
monogenic neurological defects aiding corticospinal and test, dysdiadochokinesis and negative rhomberg sign Google Scholar] [CrossRef]
dorsal spinal cord axonal atrophy with a prevalence of 2.De Beukelaer, N.; Bar-On, L.; Hanssen, B.; Peeters, N.; Prinsen,
ruling out Spinocerebellar and Friedrichs Ataxia and S.; Ortibus, E.; Desloovere, K.; Van Campenhout, A. Muscle
0.1–9.6 instances in every 100,000 around the world [1]. Peripheral Neuropathies characteristics in pediatric hereditary spastic paraplegia vs.
The critical manifestations include lower extremity *Patient showed symmetrical motor loss in bilateral bilateral spastic cerebral palsy: An exploratory study. Front.
bilateral spasticity, overactive reflexes, extensor plantar lower limbs ruling out MND Neurol. 2021, 12, 635032. [Google Scholar] [CrossRef] [PubMed]
reflex, muscle fragility, and triggered gait deviations [2]. •Patient had no atrophy or pseudohypertrophy of 3.Koh, K.; Ishiura, H.; Tsuji, S.; Takiyama, Y. JASPAC: Japan spastic
HSPs legacies are seen in almost all inheritance patterns, proximal or distal muscles with negative gower sign paraplegia research consortium. Brain Sci. 2018, 8, 153. [
namely autosomal dominant (AD), autosomal recessive Google Scholar] [CrossRef] [PubMed] [Green Version]
ruling out Muscular Dystrophies 4.Schüle, R.; Wiethoff, S.; Martus, P.; Karle, K.N.; Otto, S.; Klebe, S.;
(AR), X-linked recessive (XLR), and mitochondrial, with Klimpe, S.; Gallenmüller, C.; Kurzwelly, D.; Henkel, D.; et al.
about >80 susceptible gene loci registered to date [3,4]. On clinical neurological examination patent was found Hereditary spastic paraplegia: Clinicogenetic lessons from 608
They are clinically categorized as pure and complex, with to have bilateral Babinski positive with bilateral ankle patients. Ann. Neurol. 2016, 79, 646–658. [Google Scholar] [
the pure form characterized by neurologic impairment clonus with bilateral increased tone (clasp knife CrossRef]
limited to progressive lower-extremity spastic weakness, spasticity) with bilateral brisk knee jerk of (3 +) all of
hypertonic urinary bladder disturbance and mild which point towards a bilateral upper motor neuron
diminution with vibration sensation. disease. Upper limbs of patient and cranial nerve
A complicated form, also known as a complex form, is examination were all within normal limits. Patient
identified by the presence of other neurological or non- attained a score of (18/30) in mini mental examination
neurological manifestations such as seizures, dementia, for higher mental function which points to cognitive
muscle atrophy, ataxia, intellectual disability, peripheral impairment or low IQ.
Recent advances
neuropathy, extrapyramidal disturbance, Based on above history and clinical examination, the
gastroesophageal reflux, Dupuytren’s disease, or patient was diagnosed with Hereditary Spastic Pluripotent Stem Cells as a Preclinical
varicose veins Paraplegia and needs registration, genetic testing, EMG
and NCV studies, MRI brain and spinal cord for Cellular Model for Studying Hereditary
confirmation of the diagnosis. Spastic Paraplegias in neurogenetic research
and management