Seipin, encoded by the BSCL2 gene, is a protein that in humans is expressed mainly in the central nervous system. Uniquely, certain variants in BSCL2 can cause both generalized congenital lipodystrophy type 2, upper and/or lower motor neuron diseases, or progressive encephalopathy, with a poor prognosis during childhood. The latter, Celia’s encephalopathy, which may or may not be associated with generalized lipodystrophy, is caused by the c.985C >T variant. This cytosine to thymine transition creates a cryptic splicing zone that leads to intronization of exon 7, resulting in an aberrant form of seipin, Celia seipin. It has been proposed that the accumulation of this protein, both in the endoplasmic reticulum and in the nucleus of neurons, might be the pathogenetic mechanism of this neurodegenerative condition. In recent years, other variants in BSCL2 associated with generalized lipodystrophy and progressive epileptic encephalopathy have been reported. Interestingly, most of these variants could also lead to the loss of exon 7. In this review, we analyzed the molecular bases of Celia’s encephalopathy and its pathogenic mechanisms, the clinical features of the different variants, and a therapeutic approach in order to slow down the progression of this fatal neurological disorder.

https://www.mdpi.com/2077-0383/10/7/1435/pdf

Celia's Encephalopathy (BSCL2-Gene-Related): Current Understanding.

Congenital lipodystrophy is a group of rare syndrome characterized by the absence of subcutaneous tissue. Affecting less per million live birth, this condition associate metabolic disturbance including severe insulin resistance and progeroid appearance. Diagnosis may be fortuitous or related to complications as presented in the present case series. Lipodystrophy can be generalized or localized. Acquired lipodystrophy is associated with some drugs like antiretroviral. Thus, the condition is well described in African HIV patients but data on congenital forms from Sub Saharan Africa are sparse, justifying the present report. We present four cases, with peculiar appearance associated with increased blood triglycerides. Two on four of the patients presented diabetes mellitus. Genetic testing was not available, questioning the actual guidelines of diagnosis for our context.

/pdf/congenital-lipodystrophy-a-case-series-report-from-cameroon-1il8mzvl0u.pdf

Congenital Lipodystrophy: A Case Series Report from Cameroon

Abstract Objectives Congenital generalized lipodystrophy (CGL) is a group of rare autosomal inherited diseases characterized by a widespread loss of adipose tissue. The main purpose of this study was to evaluate the features of Chinese patients with CGL2. Methods Three patients diagnosed with CGL2 from our center were reviewed. Data on clinical features, results of laboratory analyses, and previous treatments were retrospectively collected. This study also reviewed studies that reported patients diagnosed with CGL2 in the last 30 years. Results All patients presented a lack of subcutaneous fat, hypertriglyceridemia, reversed triangular faces, acanthosis nigricans, and hepatomegaly within the first six months of life. All three patients developed splenomegaly, and mental retardation in later life. Dietary control dramatically lowered triglyceride levels in all patients. One patient presented with diabetes mellitus at 1 year-old. Although combined therapy with low fat diet and metformin maintained normal levels of blood lipid and glucose, this patient developed hypertrophic cardiomyopathy at the age of three. By a literature review on all Chinese cases with CGL2, it is known that classic manifestations such as hypertriglyceridemia, hepatomegaly and diabetes mellitus can occur shortly after birth, and early diagnosis and treatment can improve quality of life. In this cohort, the most frequent variations are c.782dupG and c.974dup in the BSCL2 gene. However, the same genotype may have different clinical phenotypes in patients with CGL2. Conclusions This study not only described the clinical and genetic features of three patients with CGL2 in China, but also reviewed literature about CGL2 around the world.

Features of BSCL2 related congenital generalized lipodystrophy in China: long-term follow-up of three patients and literature review

Objective To retrospectively analyze the clinical data of a patient with congenital generalized lipodystrophy (CGL) type 2 caused by BSCL2 mutation. Methods The clinical data of a patient with CGL was analyzed, including clinical features, laboratory data. The next generation sequencing was adopted to inspect gene mutations associated with CGL. Sanger sequencing was used to verify the pathogenic mutations. Treatment and follow-up were given to the patient. Results Patient manifested as lacking of subcutaneous fat,hepatomegaly,acanthosis nigricans,developmental retardation,epilepsy,ataxia and neurodegeneration. The levels of serum liver enzyme, triacylglyceride(TAG) and fasting insulin increased. Multiple types of seizures were detected by electroencephalogram (EEG). Gene sequencing revealed homozygous mutations of BSCL2,c.782dupG inherited from his parents respectively. The patient failed to respond to the treatment with diet control, metformin and lamotrigine, and neurologic function deteriorated gradually. Conclusions CGL2 caused by BSCL2 base repeat mutation may have serious and lethal nervous degeneration in addition to typical lipodystrophy.

A congenital generalized lipodystrophy patient complicated with critical central neurological involvement due to BSCL2 mutations

Medical management of a child with congenital generalized lipodystrophy accompanied with progressive myoclonic epilepsy: A case report.

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Medical management of a child with congenital generalized lipodystrophy accompanied with progressive myoclonic epilepsy: A case report.