A Rare Case of Unilateral Lower Limb Spasticity: Two Rare Mutations!

Case Report

Austin J Neurol Disord Epilepsy. 2017; 4(1): 1028.

A Rare Case of Unilateral Lower Limb Spasticity: Two Rare Mutations!

Mazumdar J¹*, Ghosh S², Mahato M², Chandra Ghosh K², Bhattacharya R² and Mondal G²

¹Department of Pediatrics, Calcutta National Medical College & Hospital, Calcutta, India

²Department of Neurology, Calcutta National Medical College & Hospital, Calcutta, India

*Corresponding author: Jayitri Mazumdar, Department of Pediatrics, Calcutta National Medical College & Hospital, Calcutta, India

Received: December 30, 2016; Accepted: January 19, 2017; Published: January 23, 2017


The SPG11 gene was first analyzed, revealing homozygous or compound heterozygous mutations in 30/97 (30.9%) of pro bands, the largest SPG11 series reported to date, and by far the most common cause of complex spastic paraplegia Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous neurological disorders characterized by path physiologic hallmark of length-dependent distal axonal degeneration of the corticospinal tracts. HSP can be transmitted as an Autosomal Dominant (AD), Autosomal Recessive (AR), X-linked (XL), or mitochondrial manner. Here we describe a 15-yr-oldboy with abnormal posturing of right lower limb (dystonia and spasticity) during walking, who MRI is showed thinned out corpus callosum. Patients younger brother also had weakness in the lower limbs and Similar MRI findings. Mutation analysis revealed two rare variations in the SPG 11 gene not reported in medical literature till date.

Keywords: Hereditary spastic paraplegia (HSP); Autosomal recessive


In its pure form, Hereditary spastic paraplegias (HSP) is usually transmitted as an autosomal trait; Symptoms usually begin in the third in the third or fourth decade, presenting as progressive spastic weakness beginning in the distal lower extremities. However, there are variants with relatively early onset mimicking cerebral palsy. HSP has a typically long survival as respiratory function is spared1. Late in the illness, there may be urinary urgency, incontinence and fecal incontinence. In pure forms of HSP, spastic leg weakness is often accompanied by posterior column abnormalities and bladder bowel dysfunction. By contrast, when recessively inherited HSP may have complex forms in which altered corticospinal and dorsal column function is accompanied by significant involvement of other regions of nervous system, including amyotrophy, mental retardation, optic atrophy and sensory neuropathy [1].

Here we present a 15 yr old boy with complex hereditary spastic paraparesis, which is asymmetric in involvement i.e. right side affected more than left, along with mild mental retardation and thin corpus callosum, showing two heterozygous variations in the SPG 11 gene at a time. These two variations are extremely rare and not reported in medical literature till date, giving a unique presentation in the index case with right lower limb dystonia with spasticity.

Case Presentation

15-yr-old-male, residing at Bangladesh was admitted in this hospital with chief complaints of insidious onset and gradually progressive weakness of both lower limbs for last 1 year. The weakness was distal to start with and gradually progressed to involve the proximal limb. There was abnormal posturing of the right foot especially during walking (Video 1) for the same duration which subsided during sleep.


Please download Video here

Patient was alert and conscious with no alteration of sensorium. The illness was not preceded by fever, rash, joint pain. There was no associated gaze palsy, bulbar or other carnial nerve involvement. Patient had no bladder bowel abnormality, tingling numbness, self mutilating behaviour or any other abnormal movement except the dystonia of right foot as described before. Past history was uneventful. Family history reveals patients younger brother has similar complain.

On examination, higher mental function revealed a MMSE (mini mental score estimation) of 22/30 and IQ assessment showed mild mental retardation with an IQ score of 70. All the cranial nerves were normal in function. The right foot was inverted and plantiflexed during examination of gait. There were no appreciable weakness in the upper limbs, neck and axial muscles. Power was 5/5 in both the upper limbs and 4/5 in both lower limbs with planter bilateral extensor.

Laboratory investigations showed CBC, electrolytes within normal limit. CSF study showed nothing significant. Serum ceruloplasmin was 24mg/dl (within normal reference range) and slit lamp examination of eyes failed to demonstrate any K-F (Keisure- Fleshiers Ring). MRI revealed a thinned out corpus callosum (both in the index case and his younger brother) (Figure 1 - 2).