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  1. Al-Herz W, Ziyab AH, Adeli M, Al Farsi T, Al-Hammadi S, Al Kuwaiti AA, et al.
    Pediatr Allergy Immunol, 2022 Dec;33(12):e13901.
    PMID: 36564872 DOI: 10.1111/pai.13901
    BACKGROUND: There is an increased demand for hematopoietic stem cell transplant (HSCT) to treat various diseases including combined immunodeficiencies (CID), with limited worldwide availability. Variables affecting the decision regarding CID patients' prioritization for HSCT are not known. We aimed to determine general, clinical, and immunologic factors associated with the higher risk of early death (≤6 months after diagnosis) in untransplanted CID patients.

    METHODS: Data collection was done retrospectively from five centers and included general patients' information, and clinical and laboratory variables. Inclusion criteria were untransplanted patients who are either dead or alive with a follow-up period ≥6 months after diagnosis.

    RESULTS: Two hundred and thirty-six CID patients were reported by participating centers, of whom 111 were included in the study with a cumulative follow-up period of 278.6 years. Seventy-two patients died with the median age of death of 10.5 months. 35.1% of the patients succumbed within 6 months after the diagnosis. Having a history of Candida infections, sepsis or hepatomegaly was associated with an increased risk of early death. None of the other general or clinical variables was associated with such risk. Bivariate analysis of lymphocyte subsets showed that patients with the following counts: CD3+  

    Matched MeSH terms: Hepatomegaly/etiology
  2. 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: Hepatomegaly/etiology
  3. Tan DS, Mak JW
    PMID: 4023821
    Toxoplasmosis was found not to be an important cause of intrauterine infection in Malaysia as the rate of toxoplasma-specific IgM in 1,060 congenitally defective Malaysian children, 0 to 4 months old (0.4%) was lower than that in 405 normal children of the same age group (2.0%). A total of 8.2 intra-uterine toxoplasmic infections per 1,000 live births was detected of which one-third (2.7 per 1,000 live births) was overt, manifesting symptoms more of liver damage, than eye or brain damage. A comparison was made with the rates in U.S.A. and Europe. The role of toxoplasmosis in abortion needs to be studied.
    Matched MeSH terms: Hepatomegaly/etiology
  4. Mohammad N, Besari AM, Nair PK, Wan Ghazali WS
    BMJ Case Rep, 2017 Jul 26;2017.
    PMID: 28747414 DOI: 10.1136/bcr-2017-220490
    A previously healthy 20-year-old man presented with prolonged intermittent low grade fever and cough for 6months. He had bilateral calf pain and lower limb weakness 2days prior to admission. Physical examination revealed multiple enlarged lymph nodes with hepatomegaly. There was bilateral calf tenderness with evidence of proximal myopathy. Full blood picture showed lymphocytosis with reactive lymphocytes and eosinophilia. Creatine kinase and lactate dehydrogenase were markedly elevated. Over 2 weeks of admission, patient was treated symptomatically until the muscle biopsy of right calf revealed eosinophilic myositis with muscular sarcocystosis. He was treated with albendazole and high-dose corticosteroids. Symptoms subsided on reviewed at 2weeks and the dose of corticosteroid was tapered down slowly over a month. Due to poor compliance, he was readmitted 1month later because of relapsed. High-dose corticosteroid was restarted and duration for albendazole was prolonged for 1month. His symptom finally resolved over 2weeks.
    Matched MeSH terms: Hepatomegaly/etiology*
  5. Lee WS, Chai PF
    Ann Acad Med Singap, 2010 Aug;39(8):648-54.
    PMID: 20838708
    INTRODUCTION: This study determined any clinical features which may help to differentiate biliary atresia (BA) from other causes of neonatal cholestasis (NC).

    MATERIALS AND METHODS: A prospective and observational study was conducted on consecutive infants with NC referred to the University of Malaya Medical Centre, Malaysia, between November 1996 and May 2004.

    RESULTS: The 3 most common causes of cholestasis among the 146 infants with NC studied were idiopathic neonatal hepatitis (n = 63, 43%), BA (n = 35, 24%) and congenital cytomegalovirus hepatitis (n = 13, 9%). Common clinical features at presentation were jaundice (100%), hepatomegaly (95%), splenomegaly (52%) and pale stools (47%). Three clinical features noted to be sensitive for BA were the presence of acholic or variably acholic stools on admission, a liver which was firm/hard in consistency and a palpable liver of ≥4 cm (sensitivity of 77%, 80% and 94%, respectively), but the corresponding specificity was poor (51%, 65% and 39%, respectively). The stools of 2 children with BA were pigmented initially but became acholic subsequently.

    CONCLUSIONS: We did not find any single clinical feature with sufficient sensitivity and specificity to differentiate BA from other causes of NC. Repeated inspection of stools colour is necessary as occasionally, patients with BA may have initial pigmented stools. Biochemical assessment and imaging studies are important in the assessment of any infant with NC.

    Matched MeSH terms: Hepatomegaly/etiology
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