MyMedR

Successful closed reduction after adductor tenotomy in a 14-year-old boy with chronic hip dislocation in Down syndrome

Sadeghilar A, Rashid AH, Ibrahim S

J Pediatr Orthop B, 2014 May;23(3):244-6.

PMID: 24445537 DOI: 10.1097/BPB.0000000000000033

Dislocation or subluxation of the hip is considered as the most common hip problem in patients with Down syndrome. Recommended treatment of chronic dislocation treatment is open reduction combined with femoral and/or pelvis osteotomies. We report a Down syndrome child with chronic hip dislocation who was successfully treated with adductor tenotomy and closed reduction, which has not been reported previously.

Matched MeSH terms: Down Syndrome/complications*

Fulltext Cardiovascular malformations in Malaysian neonates with Down's syndrome

Hoe TS, Chan KC, Boo NY

Singapore Med J, 1990 Oct;31(5):474-6.

PMID: 2148028

A prospective study was done to determine the incidence of cardiovascular malformations in neonates with Down's syndrome. 17/34 (50%) of the babies with Down's syndrome born at the Maternity Hospital, Kuala Lumpur, Malaysia had congenital heart defects. These included 7 cases of ventricular septal defect (VSD), 3 cases of patent ductus arteriosus (PDA), 2 cases of atrio-ventricular canal defect, 2 cases of ventricular septal defect with patent ductus arteriosus, 1 case of hypertrophic cardiomyopathy, 1 case of hypertrophic obstructive cardiomyopathy and 1 case of complex cyanotic heart. Only 8/17 (47%) of these babies had any clinical signs suggesting underlying cardiac defects. In view of the common occurrence of cardiac anomalies, it is recommended that echocardiographic screening should be carried out on all neonates with Down's syndrome.

Matched MeSH terms: Down Syndrome/complications*

Down syndrome associated with a retroperitoneal teratoma and Morgagni hernia

Quah BS, Menon BS

Clin Genet, 1996 Oct;50(4):232-4.

PMID: 9001806

Down syndrome may be associated with many complications. Among the malignancies associated with Down syndrome, leukaemia is the most common. This is a case report of a patient with Down syndrome associated with both a retroperitoneal teratoma and a Morgagni hernia.

Matched MeSH terms: Down Syndrome/complications*

Fulltext Childhood idiopathic myelofibrosis: a case report and review of literature

Noor-Fadzilah Z, Leong CF, Sabariah MN, Cheong SK

Malays J Pathol, 2009 Dec;31(2):129-32.

PMID: 20514856 MyJurnal

Idiopathic myelofibrosis occurs predominantly in older adults. It is very rarely seen in children. We describe a 3-year-old girl with Down's syndrome who presented with recurrent chest infections associated with anaemia and easy bruising. There was mild hepatosplenomegaly. Full blood picture revealed pancytopaenia with leucoerythroblastosis with absence of circulating blast cells. Repeated attempts at bone marrow aspiration and trephine biopsy were unsuccessful. A trephine biopsy from the tibia showed depressed myelopoiesis and erythropoiesis, megakaryocytes with atypical morphology and increased bone marrow reticulin fibres, findings compatible with idiopathic myelofibrosis. She was treated symptomatically as she was clinically stable. Review of the English literature online yielded 46 reported cases of childhood idiopathic myelofibrosis with variable outcome from spontaneous remission to an indolent course with shortened survival. 6 cases evolved to another malignancy. 5 cases were associated with Down's syndrome.

Matched MeSH terms: Down Syndrome/complications

Fulltext Transient abnormal myelopoeisis in newborns with Down syndrome

Zarina AL, Hamidah A, Yong SC, Rohana J, Hamidah NH, Azma RZ, et al.

Malays J Pathol, 2007 Dec;29(2):107-11.

PMID: 19108403 MyJurnal

Transient abnormal myelopoeisis (TAM) is a haematological phenomenon commonly seen in newborns with Down syndrome. Although the majority show spontaneous resolution, this condition should not be dismissed too readily as there have been associated fatalities. Furthermore, even for those who do show spontaneous resolution, a significant percentage will develop acute megakaryoblastic leukaemia within the next few years of life. We report a series of four patients with TAM who presented with hepatosplenomegaly and leucocytosis detected on preliminary investigations.

Matched MeSH terms: Down Syndrome/complications*

Fulltext Progressive supra-axial cervical instability in Down syndrome: a case report emphasising the role of extended short-segment fusion

Tan GH, Tan KK, Afian MS, Liew WF, Mohamad AR

Med J Malaysia, 2005 Jul;60 Suppl C:111-3.

PMID: 16381295

We report a case of upper cervical instability associated with Down syndrome to highlight its potential progression to inflict cord compression and the rationale for surgical decompression and extended short segment occipito-axial fusion.

Matched MeSH terms: Down Syndrome/complications*

Fulltext Otological disorders in Down's Syndrome

Satwant S, Subramaniam KN, Prepageran N, Raman R, Jalaludin MA

Med J Malaysia, 2002 Sep;57(3):278-82.

PMID: 12440266

Objective: To assess if children with Down's Syndrome have a higher prevalence of otological abnormality compared to their normal counterparts in Malaysia.
Methodology: Thirty children with Down’s Syndrome and normal children underwent otoscope ear examination and impedance test in the ENT outpatients clinic in University Hospital Kuala Lumpur, Malaysia.
Results: The study showed that children with Down’s Syndrome had higher ontological disorders. Forty four percent had impacted wax compared to 14.4% in normal children. Twenty one percent of ears in the study group had refracted drums compared to 6.6% of control. Fifteen percent of ears in the study group had middle ear effusion compared to 3.4% in controls, 55% had a type B tympanogram compared to 8.3% in controls and 73.4% had auditory canal stenosis compared to 14.4% in controls.
Conclusion: Children with Down’s Syndrome thus have a higher incidence of ontological disorders.

Study site: ENT outpatient clincs, University Malaya Medical Centre (UMMC)

Matched MeSH terms: Down Syndrome/complications*

Congenital atresia and stenosis of the duodenum--a case report

Lal M, Said MY

Med J Malaysia, 1974 Jun;28(4):283-6.

PMID: 4278623

Matched MeSH terms: Down Syndrome/complications

Dental care access among individuals with Down syndrome: a Malaysian scenario

Abdul Rahim FS, Mohamed AM, Marizan Nor M, Saub R

Acta Odontol Scand, 2014 Nov;72(8):999-1004.

PMID: 25029211 DOI: 10.3109/00016357.2014.936036

The purpose of this cross-sectional study was to assess the legal representatives' perceptions on dental care access of individuals with Down syndrome (DS) compared to their non-DS siblings in Peninsular Malaysia.

Matched MeSH terms: Down Syndrome/complications*

Fulltext Visual and binocular status of Down syndrome children in Malaysia

Mohd-Ali B, Mohammed Z, Norlaila M, Mohd-Fadzil N, Rohani CC, Mohidin N

Clin Exp Optom, 2006 May;89(3):150-4.

PMID: 16637969 DOI: 10.1111/j.1444-0938.2006.00033.x

Down syndrome is a common chromosomal anomaly. Few reported studies make reference to the ocular status in Asian children with Down syndrome. The purpose of this study was to determine the visual and binocular status of a sample of Down syndrome children in Malaysia.

Matched MeSH terms: Down Syndrome/complications

Fulltext GATA1 mutations in a cohort of Malaysian children with Down syndrome-associated myeloid disorder

Lum SH, Choong SS, Krishnan S, Mohamed Z, Ariffin H

Singapore Med J, 2016 Jun;57(6):320-4.

PMID: 27353457 DOI: 10.11622/smedj.2016106

INTRODUCTION: Children with Down syndrome (DS) are at increased risk of developing distinctive clonal myeloid disorders, including transient abnormal myelopoiesis (TAM) and myeloid leukaemia of DS (ML-DS). TAM connotes a spontaneously resolving congenital myeloproliferative state observed in 10%-20% of DS newborns. Following varying intervals of apparent remission, a proportion of children with TAM progress to develop ML-DS in early childhood. Therefore, TAM and ML-DS represent a biological continuum. Both disorders are characterised by recurring truncating somatic mutations of the GATA1 gene, which are considered key pathogenetic events.

METHODS: We herein report, to our knowledge, the first observation on the frequency and nature of GATA1 gene mutations in a cohort of Malaysian children with DS-associated TAM (n = 9) and ML-DS (n = 24) encountered successively over a period of five years at a national referral centre.

RESULTS: Of the 29 patients who underwent GATA1 analysis, GATA1 mutations were observed in 15 (51.7%) patients, including 6 (75.0%) out of 8 patients with TAM, and 9 (42.9%) of 21 patients with ML-DS. All identified mutations were located in exon 2 and the majority were sequence-terminating insertions or deletions (66.7%), including several hitherto unreported mutations (12 out of 15).

CONCLUSION: The low frequency of GATA1 mutations in ML-DS patients is unusual and potentially indicates distinctive genomic events in our patient cohort.

Matched MeSH terms: Down Syndrome/complications

GATA1 mutations in patients with down syndrome and acute megakaryoblastic leukaemia do not always confer a good prognosis

Ariffin H, Garcia JC, Daud SS, Ibrahim K, Aizah N, Ong GB, et al.

Pediatr Blood Cancer, 2009 Jul;53(1):108-11.

PMID: 19260099 DOI: 10.1002/pbc.21983

Children with Down syndrome and acute megakaryoblastic leukemia (DS-AMKL) have been shown to have increased sensitivity to cytarabine based chemotherapy. The excellent prognosis in patients with DS-AMKL may be due to mutations in the GATA1 gene leading to reduced expression of the enzyme cytidine deaminase. This leads to a decreased ability to convert cytarabine into its inactive metabolite, resulting in high intracellular concentration of this cytotoxic agent. We report two cases of DS-AMKL with GATA1 mutations who had poor outcome. These patients had high expression levels of cytidine deaminase mRNA transcripts. We speculate that other factors can affect overall outcome in patients with DS-AMKL irrespective of the presence of GATA1 mutations.

Matched MeSH terms: Down Syndrome/complications

Dexmedetomidine and ketamine sedation for dental extraction in children with cyanotic heart disease

Hasan MS, Chan L

J Oral Maxillofac Surg, 2014 Oct;72(10):1920.e1-4.

PMID: 24985961 DOI: 10.1016/j.joms.2014.03.032

Treating children with cyanotic congenital heart disease poses many challenges to anesthesiologists because of the multiple problems associated with the condition. The anesthetic technique and drugs used perioperatively can affect a patient's physiologic status during surgery. The adherence to certain hemodynamic objectives and the avoidance of factors that could worsen the abnormal cardiopulmonary physiology cannot be overemphasized. In the present case series, we describe the use of a dexmedetomidine-ketamine combination for dental extraction in spontaneously breathing children with cyanotic congenital heart disease. The anesthetic concerns regarding airway management, the pharmacologic effects of drugs, and maintenance of adequate hemodynamic, blood gases, and acid-base status are discussed.

Matched MeSH terms: Down Syndrome/complications

Fulltext Defects in nerve conduction velocity and different muscle fibre-type specificity contribute to muscle weakness in Ts1Cje Down syndrome mouse model

Bala U, Leong MP, Lim CL, Shahar HK, Othman F, Lai MI, et al.

PLoS One, 2018;13(5):e0197711.

PMID: 29795634 DOI: 10.1371/journal.pone.0197711

BACKGROUND: Down syndrome (DS) is a genetic disorder caused by presence of extra copy of human chromosome 21. It is characterised by several clinical phenotypes. Motor dysfunction due to hypotonia is commonly seen in individuals with DS and its etiology is yet unknown. Ts1Cje, which has a partial trisomy (Mmu16) homologous to Hsa21, is well reported to exhibit various typical neuropathological features seen in individuals with DS. This study investigated the role of skeletal muscles and peripheral nerve defects in contributing to muscle weakness in Ts1Cje mice.

RESULTS: Assessment of the motor performance showed that, the forelimb grip strength was significantly (P<0.0001) greater in the WT mice compared to Ts1Cje mice regardless of gender. The average survival time of the WT mice during the hanging wire test was significantly (P<0.0001) greater compared to the Ts1Cje mice. Also, the WT mice performed significantly (P<0.05) better than the Ts1Cje mice in the latency to maintain a coordinated motor movement against the rotating rod. Adult Ts1Cje mice exhibited significantly (P<0.001) lower nerve conduction velocity compared with their aged matched WT mice. Further analysis showed a significantly (P<0.001) higher population of type I fibres in WT compared to Ts1Cje mice. Also, there was significantly (P<0.01) higher population of COX deficient fibres in Ts1Cje mice. Expression of Myf5 was significantly (P<0.05) reduced in triceps of Ts1Cje mice while MyoD expression was significantly (P<0.05) increased in quadriceps of Ts1Cje mice.

CONCLUSION: Ts1Cje mice exhibited weaker muscle strength. The lower population of the type I fibres and higher population of COX deficient fibres in Ts1Cje mice may contribute to the muscle weakness seen in this mouse model for DS.

Matched MeSH terms: Down Syndrome/complications

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