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Hunter syndrome, or mucopolysaccharidosis type 2 (MPS2), is a lysosomal storage disorder associated with the involvement of multiple organs such as the central nervous system, hepatomegaly, musculoskeletal, respiratory, cardiac, and hearing. This is due to the accumulation of glycosaminoglycans in body tissues leading to organ failure. Since the laboratories in Kenya do not screen for metabolic diseases, there is the likelihood of assumption that these patients do not exist. These first cases were referred from the eastern part of Kenya where the majority of inhabitants are from the same ethnic community. It was noted that there was increased mortality among boys below the age of 20 years, and hence, the families sought for help in the national referral and teaching hospital. The case series is meant to show that these cases exist and the majority of the patients may be dying before the diagnosis is made. There are no data on MPS2 from Kenya, and the prevalence and incidence are unknown. In this retrospective study, we present a case series of 6 Kenyan boys with MPS2 from a national referral hospital. They were part of 17 patients who had had their blood analyzed for metabolic diseases. All of them were symptomatic with varying degrees of central nervous system involvement. They had undetectable levels of iduronate-2-sulfatase (I2S) enzyme, and three genetic mutations were detected in the IDS gene. [ABSTRACT FROM AUTHOR]

Background Kawasaki disease (kDa) is a childhood vasculitides that affects small and medium-sized arteries. It is self-limiting but when left untreated can cause coronary artery aneurysms in about 25% of children1. The diagnosis is clinical and is made with the criteria of fever for at least five days, and at least four out of five other clinical signs: bilateral non-exudative conjunctivitis, oral mucous membrane changes, peripheral extremity changes, polymorphous rash, and cervical lymphadenopathy. Incomplete kDa is diagnosed with fever for at least five days and at least 2–3 of the principal signs, with suggestive lab investigations and lack of an alternative diagnosis1. kDa is named after Dr Tomisaku Kawasaki who first described it in 1967 in Japan2. The highest incidence of kDa continues to be reported among Asian children, with an incidence rate of 264.8 per 100 000 population aged 0–4 years as per Japan's latest nationwide survey3. In Africa, the true incidence is unknown but several case reports have been published. A 2016 paper by Gorrab et al.4 found that the annualized incidence rate of kDa in the Maghreb children living in Quebec (18.49/year/100 000 children under 5 years of age) was 4–12 times higher than reported in their countries of origin- Tunisia, Morocco, and Algeria (0.95, 4.52, and 3.15, respectively) suggesting a likelihood of under-diagnosis. This case series sought to highlight the characteristics, presentation, and management of patients diagnosed with kDa in a tertiary hospital in Kenya. Methods This was a retrospective cross-sectional study carried out by reviewing the charts of all the patients with a discharge diagnosis of kDa from January 2013 to December 2017 at the Aga Khan University Hospital, Nairobi. Their demographics, presentation, diagnostic work-up, and management are reported. Analysis was done by descriptive statistics using the Microsoft Excel 2016 Application. Results A total of 15 cases were identified and the patient characteristics and presentation are as tabulated below: Characteristic.  n (%).  Age (mean+/-SD, range, years)   2+/-1.5 (0.3-5.7)  Sex—Males   8 (53.3)  Duration of fever at diagnosis (mean +/-SD, range, days)   6.8+/-3.4 (2-13)  Incomplete KD   7 (46.7)  Clinical Features: Fever   15 (100)  Oral Changes   15 (100)  Extremity changes   12 (80)  Cervical lymphadenopathy   9 (60)  Non-exudative conjunctivitis   8 (53.3)  Characteristic.  n (%).  Age (mean+/-SD, range, years)   2+/-1.5 (0.3-5.7)  Sex—Males   8 (53.3)  Duration of fever at diagnosis (mean +/-SD, range, days)   6.8+/-3.4 (2-13)  Incomplete KD   7 (46.7)  Clinical Features: Fever   15 (100)  Oral Changes   15 (100)  Extremity changes   12 (80)  Cervical lymphadenopathy   9 (60)  Non-exudative conjunctivitis   8 (53.3)  Open in new tab Characteristic.  n (%).  Age (mean+/-SD, range, years)   2+/-1.5 (0.3-5.7)  Sex—Males   8 (53.3)  Duration of fever at diagnosis (mean +/-SD, range, days)   6.8+/-3.4 (2-13)  Incomplete KD   7 (46.7)  Clinical Features: Fever   15 (100)  Oral Changes   15 (100)  Extremity changes   12 (80)  Cervical lymphadenopathy   9 (60)  Non-exudative conjunctivitis   8 (53.3)  Characteristic.  n (%).  Age (mean+/-SD, range, years)   2+/-1.5 (0.3-5.7)  Sex—Males   8 (53.3)  Duration of fever at diagnosis (mean +/-SD, range, days)   6.8+/-3.4 (2-13)  Incomplete KD   7 (46.7)  Clinical Features: Fever   15 (100)  Oral Changes   15 (100)  Extremity changes   12 (80)  Cervical lymphadenopathy   9 (60)  Non-exudative conjunctivitis   8 (53.3)  Open in new tab In addition to elevated inflammatory markers (C reactive protein and/or Erythrocyte Sedimentation Rate), a significant number of the patients also had sterile pyuria (9/9), hypoalbuminemia (8/10), thrombocytosis (8/15), and anaemia (11/15). Nine out of eleven had negative blood cultures. Fourteen out of the fifteen patients had echocardiograms done during admission. Only one patient was found to have abnormal findings of bilaterally dilated coronaries arteries. Five patients had at least one documented repeat echocardiogram. Fourteen patients received Intravenous Immunoglobulin (IVIG), with 13 of them responding to treatment. No adverse effects were reported after treatment. One patient did not improve and needed a second dose of IVIG and intravenous methylprednisone (30 mg/kg). Fourteen patients received aspirin but dosing varied from high (80–90 mg/kg/day) to moderate (30–50 mg/kg/day) to low dose (3 mg/kg/day). One patient on high-dose aspirin was noted to have developed symptoms consistent with aspirin-induced bronchospasm and was changed to low dose. Conclusion This case series highlights the presence of kDa in the Kenyan pediatric population with patient characteristics similar to what is reported globally. Diagnosis was made after a mean of about 7 days, possibly due to low awareness of the disease among healthcare professionals. Management with IVIG in most cases was successful but more guidance is needed around the use of steroids and the dosing of aspirin. [ABSTRACT FROM AUTHOR]