{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,26]],"date-time":"2026-05-26T08:06:55Z","timestamp":1779782815946,"version":"3.53.1"},"reference-count":28,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2026,5,23]],"date-time":"2026-05-23T00:00:00Z","timestamp":1779494400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Farber lipogranulomatosis with spinal muscular atrophy with progressive myoclonic epilepsy (FL-SMA-PME) is inherited in an autosomal recessive manner because of pathogenic variations in the\n                      <jats:italic toggle=\"yes\">ASAH1<\/jats:italic>\n                      gene. We report a series of 4 children from 3 different families with genetically proven FL-SMA-PME.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Cases<\/jats:title>\n                    <jats:p>A 5-year-old girl born of a second-degree consanguineous marriage presented with progressive myoclonic epilepsy for 4 years, neuroregression, and skeletal deformities. A 6-year-old girl born of a non-consanguineous marriage presented with milestones regression, cognitive decline, myoclonic jerks, and joint pain from the age of 2 years. Her elder sibling had similar complaints. A 3-year-old girl born to second-degree consanguineously married parents presented with developmental delay and myoclonic jerks. The common features noted were frontal bossing, central hypotonia, contractures, and flexion deformity of the wrist and fingers, flat feet with flexion deformity and contractures, fasciculations, generalized osteopenia, and swelling at multiple joints.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      All 4 children had developmental regression and PME. Central hypotonia was noted in 4 of 4 children (100%). Three of 4 children (75%) had corneal clouding, 2 of 4 (50%) had nystagmus, and 2 of 4 (50%) had cherry-red spots. Nerve conduction study showed axonal motor type polyneuropathy in 4 of 4 patients (100%). Genetic testing in patient 1 revealed c.553T&gt;C(p.Trp185Arg) in exon 8, patients 2 and 3 revealed c.553T&gt;C(p.Trp185Arg) in exon 8 and deletion c.(126+1_127-1)_(351+1_352-1) in exons 2 to 4, and patient 4 revealed c.505T&gt;C(p.Trp169Arg) in exon 8 and c.314T&gt;C(p.Leu105Pro) in exon 5 of\n                      <jats:italic toggle=\"yes\">ASAH1<\/jats:italic>\n                      gene.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      <jats:italic toggle=\"yes\">ASAH1-<\/jats:italic>\n                      related disorders are multifaceted, representing an amalgamation of storage disorder, neurodegeneration, and peripheral nervous system involvement. Misdiagnosis can be common because of the multitude of presentations.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/08830738261450259","type":"journal-article","created":{"date-parts":[[2026,5,23]],"date-time":"2026-05-23T11:36:36Z","timestamp":1779536196000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Farber Lipogranulomatosis With Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy: Expanding the Phenotypic Spectrum"],"prefix":"10.1177","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3153-0736","authenticated-orcid":false,"given":"Lokesh","family":"Saini","sequence":"first","affiliation":[{"name":"All India Institute of Medical Sciences"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3494-8863","authenticated-orcid":false,"given":"Pradeep Kumar","family":"Gunasekaran","sequence":"additional","affiliation":[{"name":"NYC Health + Hospitals\/Harlem"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashna","family":"Kumar","sequence":"additional","affiliation":[{"name":"All India Institute of Medical Sciences"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sujatha","family":"Manjunathan","sequence":"additional","affiliation":[{"name":"All India Institute of Medical Sciences"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashwini","family":"Chityala","sequence":"additional","affiliation":[{"name":"All India Institute of Medical Sciences"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rahul","family":"Gupta","sequence":"additional","affiliation":[{"name":"All India Institute of Medical Sciences"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanuja","family":"Rajial","sequence":"additional","affiliation":[{"name":"All India Institute of Medical Sciences"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veena","family":"Laxmi","sequence":"additional","affiliation":[{"name":"All India Institute of Medical Sciences"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Divya","family":"Aggarwal","sequence":"additional","affiliation":[{"name":"All India Institute of Medical Sciences"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anil","family":"Budania","sequence":"additional","affiliation":[{"name":"All India Institute of Medical Sciences"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2026,5,23]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-018-0845-z"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000200243"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24056"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.3390\/ijms21051607"},{"key":"e_1_3_3_6_2","unstructured":"Dyment DA Bennett S AL Medin JA Levade T. ASAH1-related disorders. GeneReviews\u00ae [Internet]. University of Washington Seattle; 1993-2025. Published online March 2018. https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK488189\/."},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.2317"},{"issue":"4","key":"e_1_3_3_8_2","first-page":"499","article-title":"A lipid metabolic disorder: disseminated lipogranulomatosis; a syndrome with similarity to, and important difference from, Niemann-Pick and Hand-Sch\u00fcller-Christian disease","volume":"84","author":"Farber S","year":"1952","unstructured":"Farber S. A lipid metabolic disorder: disseminated lipogranulomatosis; a syndrome with similarity to, and important difference from, Niemann-Pick and Hand-Sch\u00fcller-Christian disease. AMA Am J Dis Child. 1952;84(4):499-500.","journal-title":"AMA Am J Dis Child"},{"key":"e_1_3_3_9_2","volume-title":"Acid Ceramidase Deficiency: Farber Lipogranulomatosis. Scriver\u2019s OMMBID (Online Metabolic and Molecular Bases of Inherited Disease)","author":"Levade T","year":"2014","unstructured":"Levade T, Sandhoff K, Schulze H, Medin JA. Acid Ceramidase Deficiency: Farber Lipogranulomatosis. Scriver\u2019s OMMBID (Online Metabolic and Molecular Bases of Inherited Disease). McGraw-Hill; 2014, Available at: 10.1036\/OMMBID.173."},{"key":"e_1_3_3_10_2","unstructured":"Orphanet: An online rare disease and orphan drug data base. Farber disease. ORPHA:333. 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Farber disease mimicking juvenile idiopathic arthritis: the first reported case in Qatar and review of the literature. Case Rep Genet. 2022;2022:2555235.","journal-title":"Case Rep Genet"},{"key":"e_1_3_3_28_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61752"},{"issue":"1","key":"e_1_3_3_29_2","first-page":"97","article-title":"Farber disease overlapping with stiff skin syndrome: expanding the spectrum","volume":"10","author":"El-Kamah G","year":"2009","unstructured":"El-Kamah G, el-Darouti M, Kotoury A, Mostafa M. Farber disease overlapping with stiff skin syndrome: expanding the spectrum. 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