Objective: To summarize the genotypes and clinical characteristics of homozygous family hypobetalipoproteinemia (Ho-FHBL) caused by apolipoprotein B (APOB) gene variations. Methods: The clinical, laboratory, genetic, and liver histology data of a boy with Ho-FHBL managed in the hepatology ward of the Children's Hospital of Fudan University in May 2021 were retrospectively analyzed. The literature was searched from China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, China VIP database, China Biology Medicine disc and PubMed database (up to May 2022) with "familial hypobetalipoproteinemia" or "hypobetalipoproteinemias" or "hypo beta lipoproteinemia" or "hypolipoproteinemias" as the search terms. All relevant literatures were reviewed to summarize the clinical and genetic features of Ho-FHBL caused by APOB gene variations. Results: The male patient was admitted to the hospital due to abnormal liver function tests for 8 months at the age of 4 years and 6 months. Blood biochemistry showed transaminitis and abnormally low serum levels of lipids. Liver biopsy revealed fatty liver with inflammation and early cirrhosis (Brunt score was F3G2S4). Whole exome sequencing revealed two novel variants of APOB gene (c.3745C>T, p.Q1249 * from the father and c.4589_4592delinsAGGTAGGAGGTTTAACTCCTCCTACCT, p.T1530Kfs * 12 from the mother). He was diagnosed as Ho-FHBL caused by APOB gene compound heterozygous variations. Literature search retrieved 36 English literatures and 0 Chinese literature. A total of 55 (23 males and 32 females) Ho-FHBL cases, including this one, were caused by 54 APOB gene pathogenic variants (23 frameshift, 15 nonsense, 7 missense, 8 splice and 1 gross deletions). The age of the last follow-up was between 1 month and 75 years. Among them, 28 cases had lipid malabsorption, 19 cases had early dysplasia, 12 cases had no symptoms. Twenty-one patients had symptoms related to fat soluble vitamin deficiency, including 14 cases of acanthocytosis, 10 cases of neurological symptoms, and 6 cases of ocular lesions. Thirty-four patients had liver involvement, including 25 cases of elevated transaminase, 21 cases of fatty liver, 15 cases of hepatomegaly, 9 cases of liver fibrosis, 3 cases of liver cirrhosis, 1 case of hepatic hemangioma and 1 case of liver neoplastic nodule. Conclusions: The variants of APOB gene in Ho-FHBL are mainly frameshift and nonsense variations. Patients may have lipid malabsorption and (or) early dysplasia, or symptom-free. Liver involvement is common.
Child ; Female ; Humans ; Male ; Child, Preschool ; Infant ; Abetalipoproteinemia/diagnosis* ; Retrospective Studies ; Hypobetalipoproteinemias/diagnosis* ; Fatty Liver/genetics* ; Apolipoproteins B/genetics* ; Lipids

Abetalipoproteinemia ; Cilia ; Humans ; Kartagener Syndrome

McLeod syndrome is a rare X-linked multisystem disorder which forms the core of neuroacanthocytosis syndrome. Neurological symptoms characterized by chorea, seizure, cognitive impairment, and psychosis mostly develop around the 5-6th decades, accompanied by multisystem involvement comprising neuropathy, myopathy, acanthocytosis and hepatosplenomegaly. We hereby present a 60-year-old male who is the first genetically confirmed Korean McLeod syndrome patient. Genetic analysis of his XK gene revealed a previously reported 5 base pair deletion of exon 3 (c.856_860delCTCTA).
Abetalipoproteinemia ; Base Pairing ; Chorea ; Cognition Disorders ; Exons ; Humans ; Korea* ; Male ; Middle Aged ; Muscular Diseases ; Neuroacanthocytosis ; Psychotic Disorders ; Seizures

Chorea-acanthocytosis (ChAc) is a rare hereditary disorder characterized by involuntary choreiform movements and erythrocytic acanthocytosis. Pharmacotherapy for control of involuntary movements has generally been of limited benefit. Deep brain stimulation (DBS) has recently been used for treatment of some refractory cases of ChAc. We report here on the effect of bilateral high-frequency DBS of globus pallidus interna in a patient with ChAc.
Abetalipoproteinemia ; Chorea ; Deep Brain Stimulation* ; Drug Therapy ; Dyskinesias ; Globus Pallidus* ; Humans ; Neuroacanthocytosis*

Neuroacanthocytosis is a rare hereditary disorder characterized by various neurological symptoms and the presence of abnormal red blood cell called acanthocytosis. Degeneration of striatum, which accounts for characteristic motor and psychiatric symptoms, mainly attributes to the pathology of neuroacanthocytosis. We experienced a case of chorea-acanthocytosis. He was a 50 year-old-man who presented with orofacial dyskinesia, dysarthria, uncontrolled lip biting, generalized choreic movements and sensorymotor polyneuropathy. He was also suffered from obsessive eating behavior, disinhibition, impulsivity and sleep disturbance. After antipsychotic medication, his psychiatric problems were improved. Clinicians must consider psychiatric managements of progressive neurological disorder for patients' quality of life and reducing their caregiver's burden.
Abetalipoproteinemia ; Antipsychotic Agents ; Bites and Stings ; Chorea ; Dysarthria ; Erythrocytes ; Feeding Behavior ; Humans ; Lip ; Movement Disorders ; Nervous System Diseases ; Neuroacanthocytosis ; Polyneuropathies ; Quality of Life

No abstract available.
Abetalipoproteinemia ; Humans ; Neuroacanthocytosis

No abstract available.
Abetalipoproteinemia ; Humans ; Neuroacanthocytosis

Cardiovascular disease due to atherosclerosis is a leading cause of death around the world, including Singapore. Current treatment strategies primarily target low-density lipoprotein (LDL) cholesterol levels. Low levels of high-density lipoprotein (HDL) cholesterol and high triglyceride (TG) levels have been shown to increase the risk of coronary heart disease, but the clinical benefits of raising low HDL cholesterol have only been proven in a limited number of studies. This guide provides an approach on managing low HDL cholesterol levels in terms of lifestyle modifications and pharmacotherapy.
Coronary Disease ; prevention & control ; Drug Therapy, Combination ; Exercise ; Fenofibrate ; administration & dosage ; Humans ; Hypertriglyceridemia ; drug therapy ; therapy ; Hypoalphalipoproteinemias ; drug therapy ; therapy ; Hypolipidemic Agents ; administration & dosage ; Life Style ; Male ; Middle Aged ; Simvastatin ; administration & dosage

Hansens' disease is well known chronic inflammatory granulomatous disease by Macobacterium leprae., and occur rarely in these days. The wide range of clinical manifestations develop by status of the host resistant. These are from mild sensory change, erythematous macular patches, diffuse infiltrating plaque, and nodules to severe destruction of peripheral nerve and internal organ involvements. Vitilgo and xanthelasma rarely may occur in the lepromatous leprosy. The patient was a 60-year-old a farmer who complained erythematous diffuse ill defined infiltrative plaques or nodules on the face, trunk. He was diagnosed as lepromatous leprosy by skin biopsy and fite staining and had taken the standard 3 multidrug (dapsone, rifampicin, lamprene)therapy. About 3 months during the therapy, the existing skin lesions became erythematous and mild edematous, some of which show vitiligo like change, and severe general aching and neuralgia developed. Type 1 lepra reaction with upgrading was diagnosed by clinical symptoms and skin biopsy feature. The vitiligo lesions also appeared on the normal looking skin without previous lepromatous lesion. At that time, yellowish plaque appeared on both eyelid and diagnosed as xanthelasma without hypolipoproteinemia. The mutidrug therapy for lepsory continued and oral predinsolone was given for the general aching of neuralgia. The lepra skin lesions had been improved gradually and the vitiligo lesions also disappeared. Presenting case is very interesting in point of view that he had vitiligo related to type 1 lepra reaction, and simultaneously developed xanthelasma palpebrum.
Biopsy ; Eyelids ; Humans ; Hypolipoproteinemias ; Leprosy ; Leprosy, Lepromatous ; Middle Aged ; Neuralgia ; Peripheral Nerves ; Rifampin ; Skin ; Vitiligo

Tangier disease (TD) is a rare autosomal recessive disorder of lipoprotein metabolism characterized by extremely low levels of high-density lipoprotein cholesterol (HDL-C) and apolipoprotein (apo) A-I resulting in accumulation of cholesterol esters in various organs. TD is caused by mutations in the ATP-binding cassette transporter A1 (ABCA1) gene. Here, we present the first case report of a Korean patient with TD. A 45-year-old man had corneal opacity, intestinal mucosa abnormalities, and extremely low levels of HDL-C (1.8 mg/dL) and apo A-I (<10 mg/dL), consistent with a diagnosis of TD. Histologically, foamy macrophages were recognized in the submucosa of the duodenum and colon. We performed PCR-sequencing for all ABCA1 coding exons to confirm genetic abnormalities. Two novel mutations in the ABCA1 gene were identified: i.e., c.3148G>T (p.G1050X) nonsense mutation and c.3202C>T (p.R1068C) missense mutation. The c.3202C>T mutation was not found in 192 normal control alleles.
Alleles ; Apolipoprotein A-I ; Apolipoproteins ; ATP-Binding Cassette Transporters ; Cholesterol ; Cholesterol Esters ; Cholesterol, HDL ; Clinical Coding ; Codon, Nonsense ; Colon ; Corneal Opacity ; Duodenum ; Exons ; Humans ; Intestinal Mucosa ; Lipoproteins ; Macrophages ; Middle Aged ; Mutation, Missense ; Tangier Disease