A 3½-year-old girl, presented with delayed motor development and increased tone in lower limbs along with tight tendoachilles, toe walking and bilateral clonus. There were normal antenatal and perinatal period, however, after birth there was twitching of her lower limbs. Examination showed lower limb spasticity.
Brain and spinal MRI along with EEG were normal. Serum amino acids revealed hyperprolinemia type 1. Hereditary spastic paraplegia gene panel confirmed a homozygous pathogenic variant in ALS2 gene, confirming a diagnosis of infantile onset ascending hereditary spastic paraparesis. She was fitted with ankle-foot orthotics, uses a Kaye walker and is on baclofen and diazepam as she can experience spasticity and painful muscle cramps. She is being managed by a multidisciplinary team involving paediatrician, paediatric neurologist, physiotherapist, occupational therapist, speech and language therapist, dietitian and social worker. Infantile onset ascending hereditary spastic paraplegia represents a rare cause of early onset spasticity with a progressive prognosis.
- neuro genetics
- genetic screening / counselling
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Contributors EA contributed to design of the work, planning, conducting and writing of the case report including data collection, literature review and final approval of the version to be published. OD contributed to revising, data collection and writing of the case report and final approval of the version to be published. SF contributed to design of work, planning and revising of the case report and final approval of the version to be published.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.