ArticleMedicine2019
Medical management of a child with congenital generalized lipodystrophy accompanied with progressive myoclonic epilepsy: A case report.
Article in Medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
2 citing papers in PubMed, 5 citations in OpenAlex.
- Case Report: A case of progressive encephalopathy with or without lipodystrophy caused by BSCL2 variant and literature review.Frontiers in genetics · 2025Article
- Celia's Encephalopathy (Journal of clinical medicine · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
rationaleCongenital generalized lipodystrophy (CGL) is a rare autosomal recessive hereditary disease. It is associated with metabolic complications and epilepsy is rare. PATIENT CONCERNS AND DIAGNOSES: One child with BSCL2 mutation and CGL accompanied by progressive myoclonic epilepsyDiagnosis: He was diagnosed with epilepsy, CGL, and severe malnutrition.
interventionsHe was treated with sodium valproate, baclofen, aripiprazole, benzhexol, and lamotrigine for epilepsy. OUTCOMES: After 16 days of medical treatment for epilepsy, the disease was improved and the child was discharged with gastric tube inserted for the management of malnutrition. LESSONS: CGL and progressive myoclonic epilepsy is rare, and the epilepsy is partially refractory to treatments. In this particular case, the nutritional status was compromised as a complication of progressive myoclonic epilepsy and had to be managed.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.