Choroba Farbera z atrofią mięśni rdzenia i postępującą padaczką miokloniczną: rozszerzenie spektrum objawów klinicznych
Farber Lipogranulomatosis With Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy: Expanding the Phenotypic Spectrum
W skrócie
Badanie opisuje 4 dzieci z rzadką genetyczną chorobą, w której dochodzi do postępującego uszkodzenia mózgu i mięśni, co prowadzi do napadów padaczki, utraty nabytych umiejętności oraz zniekształceń szkieletu. U wszystkich pacjentów stwierdzono osłabienie mięśni, problemy ze wzrokiem i uszkodzenie nerwów obwodowych. Wyniki pokazują, że ta choroba przejawia się w wiele różnych sposobów, co może prowadzić do błędnych diagnoz, dlatego ważna jest świadomość możliwych różnych postaci tej choroby.
Oryginalny abstract (angielski)
BackgroundFarber 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 gene. We report a series of 4 children from 3 different families with genetically proven FL-SMA-PME.CasesA 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.ResultsAll 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>C(p.Trp185Arg) in exon 8, patients 2 and 3 revealed c.553T>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>C(p.Trp169Arg) in exon 8 and c.314T>C(p.Leu105Pro) in exon 5 of gene.Conclusionrelated 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.