scholarly journals Berardinelli-Seip Syndrome - A Case Report

2016 ◽  
Vol 8 (2) ◽  
pp. 101-104
Author(s):  
Jana Kazandjieva ◽  
Dimitrina Guleva ◽  
Sonya Márina ◽  
Assya Nikolova ◽  
Gergana Mladenova ◽  
...  
Keyword(s):  
Adipose Tissue ◽  
Autosomal Recessive ◽  
Acanthosis Nigricans ◽  
Autosomal Recessive Disease ◽  
Clinical Signs ◽  
Muscular Hypertrophy ◽  
Congenital Generalized Lipodystrophy ◽  
Total Absence ◽  
Altered Glucose ◽  
Rare Autosomal Recessive Disease

Abstract Congenital generalized lipodystrophy (CGL), also known as Berardinelli-Seip syndrome (BSS), is a rare autosomal recessive disease characterized by near total absence of adipose tissue and muscular hypertrophy. Additional common clinical signs are acanthosis nigricans, acromegaloid features, hepatomegaly, hyperandrogenism, altered glucose intolerance, cardiomyopathy and hypertriglyceridemia. An 11-year-old girl was admitted to our Clinic presenting with hyperandrogenic features, generalized lack of adipose tissue, generalized muscular hypertrophy and brownish colored skin on the neck, axillas and inguinal folds associated with impaired glucose tolerance and hypertension. A clinical diagnosis of congenital generalized lipodystrophy was made.

scholarly journals Phenotypic Heterogeneity in Body Fat Distribution in Patients with Congenital Generalized Lipodystrophy Caused by Mutations in the AGPAT2 or Seipin Genes

2003 ◽  
Vol 88 (11) ◽  
pp. 5433-5437 ◽  
Author(s):  
Vinaya Simha ◽  
Abhimanyu Garg
Keyword(s):  
Adipose Tissue ◽  
Body Fat ◽  
Autosomal Recessive ◽  
Acanthosis Nigricans ◽  
Fat Distribution ◽  
Body Fat Distribution ◽  
Whole Body ◽  
Severe Insulin Resistance ◽  
Congenital Generalized Lipodystrophy ◽  
Chromosome 9Q34

Abstract Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive syndrome characterized by extreme paucity of adipose tissue since birth, acanthosis nigricans, severe insulin resistance, marked hypertriglyceridemia, and early-onset diabetes mellitus. Recently, we reported mutations in the 1-acylglycerol-3-phosphate O-acyltransferase 2 (AGPAT2) gene in CGL pedigrees linked to chromosome 9q34 (CGL1 subtype), and mutations in the Seipin gene were reported in pedigrees linked to chromosome 11q13 (CGL2 subtype). Whether the two subtypes have differences in body fat distribution has not been investigated. We, therefore, compared whole-body adipose tissue distribution by magnetic resonance imaging in 10 CGL patients, of whom seven (six females, one male) had CGL1 and three (two males, one female) had CGL2. Both subtypes had marked lack of metabolically active adipose tissue located at most sc, intermuscular, bone marrow, intraabdominal, and intrathoracic regions. Paucity of mechanical adipose tissue in the palms, soles, orbits, scalp, and periarticular regions was noted in CGL2, whereas it was well preserved in CGL1 patients. We conclude that CGL patients with Seipin mutations have a more severe lack of body fat, which affects both metabolically active and mechanical adipose tissue, compared with patients with mutations in the AGPAT2 gene.

scholarly journals Rab27a

2001 ◽  
Vol 152 (4) ◽  
pp. 843-850 ◽  
Author(s):  
Philippe Bahadoran ◽  
Edith Aberdam ◽  
Frédéric Mantoux ◽  
Roser Buscà ◽  
Karine Bille ◽  
...  
Keyword(s):  
Immune Deficiency ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Vesicle Transport ◽  
Myosin V ◽  
Griscelli Syndrome ◽  
V Gene ◽  
Rare Autosomal Recessive Disease ◽  
Phenotypic Reversion

Normal pigmentation depends on the uniform distribution of melanin-containing vesicles, the melanosomes, in the epidermis. Griscelli syndrome (GS) is a rare autosomal recessive disease, characterized by an immune deficiency and a partial albinism that has been ascribed to an abnormal melanosome distribution. GS maps to 15q21 and was first associated with mutations in the myosin-V gene. However, it was demonstrated recently that GS can also be caused by a mutation in the Rab27a gene. These observations prompted us to investigate the role of Rab27a in melanosome transport. Using immunofluorescence and immunoelectron microscopy studies, we show that in normal melanocytes Rab27a colocalizes with melanosomes. In melanocytes isolated from a patient with GS, we show an abnormal melanosome distribution and a lack of Rab27a expression. Finally, reexpression of Rab27a in GS melanocytes restored melanosome transport to dendrite tips, leading to a phenotypic reversion of the diseased cells. These results identify Rab27a as a key component of vesicle transport machinery in melanocytes.

scholarly journals A novel autosomal recessive lipodystrophy syndrome due to homozygous LMNA variant

2019 ◽  
Vol 57 (6) ◽  
pp. 422-426 ◽  
Author(s):  
Nivedita Patni ◽  
Sarah Hatab ◽  
Chao Xing ◽  
Zhengyang Zhou ◽  
Claudia Quittner ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Acanthosis Nigricans ◽  
Subcutaneous Fat ◽  
Subsequent Development ◽  
Muscular Hypertrophy ◽  
Lipodystrophy Syndrome ◽  
Pathogenic Variants ◽  
Whole Exome ◽  
Upper And Lower Extremities ◽  
Mandibuloacral Dysplasia

BackgroundDespite major advances in understanding the molecular basis of various genetic lipodystrophy syndromes, some rare patients still remain unexplained.CasesWe report a novel autosomal recessive lipodystrophy affecting two sisters aged 17 and 19 years and characterised by early onset intellectual disability, and subsequent development of near-generalised loss of subcutaneous fat with diabetes mellitus, extreme hypertriglyceridemia, hepatic steatosis, short stature, clinodactyly, joint contractures, leiomyoma of uterus and cataracts in childhood. The lipodystrophy was more pronounced in the upper and lower extremities, and there was no associated muscular hypertrophy. Using whole exome sequencing in this consanguineous Hispanic pedigree, we report disease-causing homozygous p.Arg545His LMNA variant in the affected subjects, and confirm the lack of pathogenic variants in other known lipodystrophy genes. The mother and a younger brother were both heterozygous for p.Arg545His LMNA variant and were overweight with acanthosis nigricans without any evidence of lipodystrophy. Our patients are distinct from previously reported autosomal recessive lipodystrophy syndromes and have no overlap with other autosomal recessive laminopathies, including mandibuloacral dysplasia, Emery-Dreifuss muscular dystrophy and Charcot-Marie-Tooth neuropathy.ConclusionOur report of this unusual familial generalised lipodystrophy syndrome adds to the pleiotropy associated with biallelic autosomal recessive LMNA variants.

scholarly journals Acitretin Treatment for Lipoid Proteinosis

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
Özgür Gündüz ◽  
Neriman Şahiner ◽  
Pınar Atasoy ◽  
Çağrı Şenyücel
Keyword(s):  
Respiratory Tract ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Clinical Importance ◽  
Histological Evaluation ◽  
Upper Respiratory Tract ◽  
Cutaneous Lesions ◽  
Lipoid Proteinosis ◽  
Upper Respiratory ◽  
Rare Autosomal Recessive Disease

Lipoid proteinosis (LP) is a rare, autosomal-recessive disease characterized by the hoarseness and widespread cutaneous scarring, more prominent on sun-exposed areas. Yellow-white plaques can be seen on oral mucosa and on the skin among depressed scars. Histological evaluation of the affected sites shows accumulation of hyaline-like material in dermis and disruption of basement membrane. Although LP is compatible with normal life expectancy, involvement of upper respiratory tract may endanger patient's life, especially in the case of a respiratory tract infection. Involvement of central nervous system has also been reported, but its clinical importance is obscure. Due to the rarity of LP, a definite therapeutical approach is not established. In this paper we describe a 21-year-old LP patient who was treated with acitretin for six months. Although the outcome with cutaneous lesions was not satisfactory, her hoarseness was significantly improved.

Rapid and Easy Diagnosis of Netherton Syndrome with Dermoscopy

2014 ◽  
Vol 18 (4) ◽  
pp. 280-282 ◽  
Author(s):  
Zeynep Meltem Akkurt ◽  
Tuba Tuncel ◽  
Erhan Ayhan ◽  
Derya Uçmak ◽  
Ünal Uluca ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Hair Shaft ◽  
Netherton Syndrome ◽  
Ichthyosis Linearis Circumflexa ◽  
Rare Autosomal Recessive Disease

Background: Netherton syndrome is a rare autosomal recessive disease demonstrating ichthyosis linearis circumflexa, atopic findings, and hair shaft anomalies. Trichorrhexis invaginata is the pathognomonic hair shaft anomaly seen in this syndrome. Objective: In recent years, hair shaft anomalies have been described as “matchstick” and “golf tee” signs. We present a patient with Netherton syndrome diagnosed by the presence of matchstick and golf tee hairs in addition to trichorrhexis invaginata.

scholarly journals Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis: The first four patients in Serbia

2010 ◽  
Vol 138 (5-6) ◽  
pp. 351-355 ◽  
Author(s):  
Amira Peco-Antic ◽  
Martin Konrad ◽  
Gordana Milosevski-Lomic ◽  
Nikola Dimitrijevic
Keyword(s):  
Renal Failure ◽  
Secondary School ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Index Case ◽  
Serum Magnesium ◽  
Magnesium Supplementation ◽  
Moderate Renal Failure ◽  
Severe Growth ◽  
Rare Autosomal Recessive Disease

Introduction Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive disease characterized by excessive renal magnesium and calcium wasting, bilateral nehrocalcinosis and progressive renal failure. This is the first report of FHHNC of four patients in Serbia. Outline of Cases The first three patients were siblings from the same family. The index case, a 9-yearold girl, presented with severe growth retardation, polyuria and polydipsia, while her brothers, 11 and 7 years old, were disclosed during family member screening. The father had a urolithiasis when aged 18 years, while intermittent microhaematuria and bilateral microlithiasis persisted later on. The fourth patient, a 16-year-old boy with sporadic FHHNC was discovered to have increased proteinuria at routine examination of urine before registration for secondary school. He was well grown up, normotensive, but had moderate renal failure (CKD 3 stage), mild hypomagnesaemia and severe hypercalciuria and nephrocalcinosis. Beside typical clinical and biochemical data, the diagnosis of FHHNC was confirmed by mutation analysis of the CLDN16 gene; in all four affected individuals a homozygous CLDN16 mutation (Leu151Phe) was found. Treatment with magnesium supplementation resulted in the normalization of serum magnesium levels only in one patient (patient 4), but hypercalciuria persisted and renal failure progressed in all patients. Conclusion FHHNC is a rare cause of chronic renal failure. The first four patients with FHHNC in Serbia have been here described. The diagnosis of FHNNC based on the findings of nephrocalcinosis with hypomagnesiaemia and hypercalciuria, was confirmed by homozygous paracellin1-mutation exhibiting a Leu151Phe. .

scholarly journals Infantile Sandhoff's disease

2009 ◽  
Vol 13 (3) ◽  
pp. 66 ◽  
Author(s):  
K Sass ◽  
S Wiebe ◽  
E Lemire
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Radiological Features ◽  
Rare Autosomal Recessive Disease ◽  
Case Based

Case based review of the rare autosomal recessive disease. Clinical and Radiological features described in detail.

CONGENITAL AFIBRINOGENAEMIA: DIAGNOSIS, CLINICAL FEATURES, FOLLOW-UP STUDY

1987 ◽  
Author(s):  
A M JakloyazAy ◽  
Oa H dnagy
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Renal Calculi ◽  
Bleeding Tendency ◽  
Fresh Blood ◽  
Severe Injuries ◽  
Surgical Interventions ◽  
Follow Up Study ◽  
Rare Autosomal Recessive Disease

Authors followed 6 cases of congenital afibrinogenae- mia (CA) by offsprings of two apparently unrelated families from the same village. The sex ratio was4.m/3.f. CA is a rare autosomal recessive disease. Controlling 76 family members authors detected 11 cases of moderate and 2 cases of severe hypofibrinogeneemia.Among them-without any bleeding tendency-the mother of one case and both parents of two siblings with CA*The lack of fibrinogen was confirmed biochemically and immunologically too. The only symptom ofthe Illness are the severe posttraumatic bleeding. They appear as epistax- is, bleeding of the gums, or anyother bleeding aiter minor or severe injuries*Intraarticular bleeding, as in haemophilia rarely occurs inCA. One of our patients had profuse haematurias, causedby renal calculi. The only therapy is the substitution with transfusions of fresh blood, plasma, or fibrinogen concentrates*The rise of posttransfusional lllnisses grows with the number of transfusions*Stomatological or surgical interventions could be performed only after correction of the dotting abnormalitySo, one of our patients was submitted to splenectomyfor spontaneous rupture at 12 years and to nephrectomy for severe pyelo-caliceal cal- culosis with 19.He recovered fully after both interventions but died at 21 years after a bicycle accidenti The five other patients deceased at the age of 5«resp. 10 months and at 6-lo-resp 12 years. In 3 cases there was a subdural hammorrhage, once an intracranial blee- dingCnon autopsiated)and once a severe intraabdoml- nal haemorrhage after an accidental traumatism of the abdominal wall. The care of the CA cases is mostly a pediatric proble. The frequency of the pottraumatic bleeding decrease with the growth*The schoolchildren are paying more attention to avoid injuries

FAMILIAL AGOITROUS CRETINISM ACCOMPANIED BY MUSCULAR HYPERTROPHY

PEDIATRICS ◽  
1968 ◽  
Vol 41 (2) ◽  
pp. 413-420
Author(s):  
Harold E. Cross ◽  
Charles S. Hollander ◽  
David L. Rimoin ◽  
Victor A. McKusick
Keyword(s):  
Thyroid Gland ◽  
Autosomal Recessive ◽  
Thyroid Tissue ◽  
Clinical Signs ◽  
Autosomal Recessive Inheritance ◽  
Muscular Hypertrophy ◽  
Recessive Inheritance ◽  
Metabolic Defects ◽  
Thyroid Metabolism ◽  
Safe Dose

Radioiodine (I131) studies failed to detect functioning thyroid tissue in two sibs with cretinism. These patients would have been considered athyreotic by the usual criteria but technetium-99M scanning revealed thyroid tissue in one patient. Because the safe dose of technetium is nearly 40 times that of I131, this isotope is more likely to detect a small or hypoactive thyroid gland. The studies reported here suggest that the diagnosis of athyreotic cretinism should not be based on I131 studies alone. The defect in thyroid metabolism is unknown. On the basis of a normal salivary to plasma I131 ratio and the lack of significant thyroidal uptake, it is unlikely that these patients had one of the previously described thyroid metabolic defects. Evidence suggests autosomal recessive inheritance in this family. The clinical signs of cretinism included muscular hypertrophy, a complex known as the Debré-Sémélaigne syndrome. Marked clinical improvement followed institution of levothyroxine therapy. This syndrome has not been reported previously in sibs.

scholarly journals Ellis van Creveld syndrome: An unusual presentation at birth

2022 ◽  
pp. 538-540
Author(s):  
Vidisha Singh ◽  
Alka Agrawal ◽  
Kailash Chandra Aggarwal
Keyword(s):  
Autosomal Recessive ◽  
Indian Population ◽  
Neonatal Period ◽  
Autosomal Recessive Disease ◽  
Heart Defects ◽  
Consanguineous Marriage ◽  
The World ◽  
Single Atrium ◽  
Ellis Van Creveld Syndrome ◽  
Rare Autosomal Recessive Disease

Ellis Van Creveld, a syndrome comprising of chondrodysplasia, bilateral polydactyly of the hands with skeletal abnormalities, and congenital heart defect is a rare autosomal recessive disease. The prevalence of the disease in the world is 1/6000–20,000 newborns. In the Indian population, it is difficult to estimate the exact prevalence of the disease but, it is mostly seen in the Amish population. The cardinal features are short stature, dysplastic nails and teeth, polydactyly, narrow chest, and heart defects. The crucial differentials are Jeune dystrophy, Weyers syndrome, and McKusick-Kaufman syndrome. Here, we report a neonate, born of a non-consanguineous marriage with a syndromic appearance consisting of a bell-shaped chest, polydactyly, natal teeth, and single atrium. Prognosis is related to respiratory and heart defects in the early neonatal period.

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