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1.
Orphanet J Rare Dis ; 18(1): 271, 2023 09 05.
Article in English | MEDLINE | ID: mdl-37670342

ABSTRACT

BACKGROUND: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare autosomal recessive neurometabolic disorder that is caused by biallelic pathogenic SLC19A3 variants and is characterized by subacute encephalopathy associated with confusion, convulsions, dysphagia, dysarthria, or other neurological manifestations. METHODS: A retrospective review of the data registry in Kuwait Medical Genetics Center for all cases diagnosed clinically and radiographically and confirmed genetically with BTBGD. RESULTS: Twenty one cases from 13 different families were diagnosed with BTBGD in Kuwait. Most cases (86%) presented with confusion, dystonia, convulsions, or dysarthria, while three individuals were diagnosed pre-symptomatically during familial targeted genetic screening. Symptoms resolved completely within 2-week of treatment in two-thirds of the symptomatic cases but progressed in six of them to a variety of severe symptoms including severe cogwheel rigidity, dystonia and quadriparesis due to delayed presentation and management. Neuroradiological findings of the symptomatic cases revealed bilateral central changes in the basal ganglia. Two novel homozygous missense SLC19A3 variants were detected in a Kuwaiti and a Jordanian individuals, in addition to the previously reported Saudi founder homozygous variant, c.1264A > G; p.(Thr422Ala) in the remaining cases. Age of diagnosis ranged from newborn to 32 years, with a median age of 2-3 years. All cases are still alive receiving high doses of biotin and thiamine. CONCLUSION: This is the first study reporting the phenotypic and genotypic spectrum of 21 individuals with BTBGD in Kuwait and describing two novel SLC19A3 variants. BTBGD is a treatable neurometabolic disease that requires early recognition and treatment initiation. This study highlights the importance of performing targeted molecular testing of the founder variant in patients presenting with acute encephalopathy in the region.


Subject(s)
Basal Ganglia Diseases , Brain Diseases , Dystonia , Infant, Newborn , Humans , Child, Preschool , Adult , Biotin , Kuwait , Dysarthria , Retrospective Studies , Seizures , Membrane Transport Proteins
2.
Med Princ Pract ; 21(6): 516-21, 2012.
Article in English | MEDLINE | ID: mdl-22678120

ABSTRACT

OBJECTIVES: To determine the rate of inappropriate pediatric admissions using the Pediatric Appropriateness Evaluation Protocol (PAEP) and to examine variables associated with inappropriateness of admissions. SUBJECTS AND METHODS: A prospective study was conducted in the Department of Pediatrics, Farwania General Hospital, Kuwait, to examine successive admissions for appropriateness of admission as well as several sociodemographic characteristics over a 5-month period (August 2010 to December 2010). A total of 1,022 admissions were included. RESULTS: Of the 1,022 admissions, 416 (40.7%) were considered inappropriate. Factors associated with a higher rate of inappropriate admission included older age of patients and self-referral. CONCLUSION: The rate of inappropriate hospitalization of children was high in Farwania Hospital, Kuwait, probably due to the relatively free health care services, parental preference for hospital care, easy access to hospital services, and insufficient education about the child's condition.


Subject(s)
Decision Making , Hospitalization/statistics & numerical data , Hospitals, General/statistics & numerical data , Medical Errors , Pediatrics/statistics & numerical data , Age Factors , Child , Child Welfare , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Kuwait , Male , Prospective Studies , Risk Assessment
3.
Pediatr Res ; 64(6): 689-94, 2008 Dec.
Article in English | MEDLINE | ID: mdl-18670370

ABSTRACT

Late Onset Central Hypoventilation Syndrome associated with Hypothalamic Dysfunction (LO-CHS/HD) is a distinct entity among the clinical and genetic heterogeneous group of patients with late onset central hypoventilation. Here we report a series of 13 patients with LO-CHS/HD. Rapid onset obesity is the first symptom of HD followed by hypoventilation with a mean delay of 18 mos. The outcome remains poor for this group of patients and would benefit from early diagnosis to anticipate ventilation and possible metabolic disorders. Tumor predisposition is more frequent than initially suspected and as high as 40% in this series. These tumors of the sympathetic nervous system (TSNS) are usually differentiated and do not significantly worsen the prognosis. We report a familial case with recurrence in siblings. The cause underlying LO-CHS/HD remains poorly understood although recurrence in siblings argues for a monogenic disorder. We ruled out PHOX2B, ASCL1, and NECDIN as disease-causing genes by direct sequencing in our series of patients and discuss possible disease-causing mechanisms.


Subject(s)
Hypothalamic Diseases/complications , Hypothalamic Diseases/genetics , Hypoventilation/etiology , Hypoventilation/genetics , Age of Onset , Animals , Basic Helix-Loop-Helix Transcription Factors/genetics , Child , Child, Preschool , Female , Homeodomain Proteins/genetics , Humans , Hypothalamic Diseases/physiopathology , Hypoventilation/physiopathology , Infant , Male , Nerve Tissue Proteins/genetics , Nuclear Proteins/genetics , Transcription Factors/genetics
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