Confirmed diagnosis of classic Wiskott-Aldrich syndrome in East Africa: a case report.

INTRODUCTION: Wiskott-Aldrich syndrome is a rare X-linked primary immunodeficiency that mostly presents with a classic triad of eczema, microthrombocytopenia, recurrent infections, and increased risk of autoimmunity/malignancies. CASE PRESENTATION: We present an 8-month-old African male, born from nonconsanguineous parents and who presented with a history of eczematous skin rash since day 9 of life, with recurrent sinus infections, otitis media, and skin abscesses. An elder male sibling who had similar symptoms passed away during infancy. Investigations were consistent with microthrombocytopenia and significantly raised immunoglobulin E, while immunoglobulin A and immunoglobulin G were moderately elevated with normal immunoglobulin M. Genetic testing revealed the patient to be hemizygous for a pathogenic Wiskott-Aldrich syndrome gene variant (NM_000377.2:c.403C>T). He was managed conservatively with supportive treatment until he died a year later. CONCLUSION: Despite Wiskott-Aldrich syndrome being a rare disease, it should be considered as a differential in any male child who presents with microthrombocytopenia and recurrent infections, especially in low-resource settings where genetic testing is not routinely available.

Referral challenges and outcomes of neonates received at Muhimbili National Hospital, Dar es Salaam, Tanzania.

BACKGROUND: Functional referral system including pre referral care, access to emergency transport and ensuring continuity of care between facilities is critical for improved newborn health outcome. The neonatal transport system is quite undervalued in many sub Saharan countries, Tanzania included. This study assessed the pre referral care, transport process, ambulance characteristics, admission clinical status and outcomes of referred neonates at Muhimbili National Hospital Upanga, a tertiary facility in Dar es Salaam, Tanzania. METHODS: A descriptive cross sectional study with a longitudinal follow up was conducted from September 2020 to February 2021 including neonates referred to Muhimbili National Hospital. A structured questionnaire was used to collect demographic characteristics and transport factors including pre referral care extracted from the referral documents and through interviewing caregivers or escorting person/nurse. Ambulances were directly observed using a structured checklist on presence, absence and functionality of supportive equipment. All enrolled neonates had a clinical assessment at admission and 48 hours post admission to determine admission clinical status and 48 hours' clinical outcome as either survived/died. RESULTS: Out of the 348 neonates assessed during the study period, the median gestation age was 38 weeks (IQR 32, 39) with the mean birth weight of 2455 ± 938 g. Pre referral documentation showed that temperature was measured in 176 (57.1%), oxygen saturation and random blood glucose in only 143 (46.6%) and 116 (36.2%) neonates respectively. Ambulance was used as a means of transportation in 308 (88.5%) neonates. While no ambulance had an incubator only 7 (2.0%) neonates were kept on a Kangaroo Mother Care position. Monitoring enroute was done to only 94 (27%) of the transferred neonates with 169 (54.9%) of health care professionals escorting the neonates lacking training on essential newborn care. On arrival, 115 (33%) were hypothermic, 74 (21.3%) hypoxic, 30 (8.6%) with poor perfusion and 49 (14.1%) hypoglycemic. Hypothermic neonates had an increased chance of dying compared to those who were normothermic (OR = 2.09, 95% CI (1.05-4.20), p = 0.037). The chance of dying among those presenting with hypoxia was almost three times (OR = 2.88, 95%CI (1.44-5.74), p = 0.003) while those with poor perfusion was almost five times (OR = 4.76, 95%CI (1.80-12.58), p = 0.002). Additionally, neonates who had hyperglycemia (RBG > 8.3mmol/l) on arrival had a higher probability of dying compared to those who were euglycemic [(OR = 3.10, 95% CI (1.19-8.09) p = 0.021]. Overall mortality was 22.4% within 48 hours of admission and risk of dying increased as the presence of poor clinical status added on. CONCLUSION: Neonatal transportation in Dar es Salaam, Tanzania was observed to be challenging. Pre transfer care and monitoring during transportation was inadequate and this contributed to poor clinical status on admission. Hypothermia, hypoglycemia, hyperglycemia, hypoxia and poor perfusion on admission were associated with increased mortality. Effective referral network is needed for improved neonatal health outcomes. Pre referral supportive care, training of health care professionals, transportation with improved monitoring, clear communication protocol and referral documentation should be invested and effectively utilized.