{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:59:23Z","timestamp":1760147963756,"version":"3.44.0"},"reference-count":3,"publisher":"BMJ","issue":"1","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2021,12,26]]},"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:p>A 3\u00bd-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.<\/jats:p>\n               <jats:p>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 <jats:italic>ALS2<\/jats:italic> 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.<\/jats:p>","DOI":"10.1136\/bcr-2020-240941","type":"journal-article","created":{"date-parts":[[2022,1,17]],"date-time":"2022-01-17T10:46:46Z","timestamp":1642416406000},"page":"e240941","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Infantile onset ascending hereditary spastic paralysis"],"prefix":"10.1136","volume":"15","author":[{"given":"Ali","family":"Eltoum","sequence":"first","affiliation":[{"name":"Paediatric Department, Midland Regional Hospital Mullingar, Mullingar, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Declan","family":"O'Rourke","sequence":"additional","affiliation":[{"name":"Children's Health Ireland at Temple Street, Dublin, Dublin, Ireland"},{"name":"University College Dublin, Dublin, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Farhana","family":"Sharif","sequence":"additional","affiliation":[{"name":"Paediatric Department, Midland Regional Hospital Mullingar, Mullingar, Ireland"},{"name":"Royal College of Surgeons in Ireland, Dublin, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2022,1,17]]},"reference":[{"unstructured":"RW O . ALS2-Related disorder. Seattle (WA): University of Washington, 2021. https:\/\/pubmed.ncbi.nlm.nih.gov\/20301421\/","key":"2025082804292732000_15.1.e240941.1"},{"unstructured":"Genetics Home Reference . Infantile-onset ascending hereditary spastic paralysis, 2020. Available: https:\/\/ghr.nlm.nih.gov\/condition\/infantile-onset-ascending-hereditary-spastic-paralysis [Accessed 17 Apr 2020].","key":"2025082804292732000_15.1.e240941.2"},{"doi-asserted-by":"publisher","key":"2025082804292732000_15.1.e240941.3","DOI":"10.1212\/01.WNL.0000048207.28790.25"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2020-240941","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T11:29:34Z","timestamp":1756380574000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2020-240941"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1]]},"references-count":3,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2022,1,17]]},"published-print":{"date-parts":[[2022,1]]}},"alternative-id":["10.1136\/bcr-2020-240941"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2020-240941","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2022,1]]}}}