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1.
J Med Case Rep ; 17(1): 530, 2023 Dec 25.
Artigo em Inglês | MEDLINE | ID: mdl-38143282

RESUMO

BACKGROUND: Prader-Willi syndrome is a complex multisystem disorder due to the absent expression of paternally active genes in the Prader-Willi syndrome-critical region on chromosome 15 (15q11.2-q13). The main clinical features are hyperphagia (which frequently results in early-onset obesity), hypogonadism, developmental delays, typical behaviors (such as obsessive-compulsive tendencies, tantrums, perseveration, insistence on sameness, and rigidity), and distinctive facial features. In infants, the most prominent findings are hypotonia and feeding difficulties. CASE PRESENTATION: This paper highlights a case of a 14 year old male patient of an Ethiopian ethnicity with diagnosis of Prader-Willi syndrome, which is first report in Ethiopia. He presented with progressive excessive weight gain, insatiable appetite, clinical and laboratory features of hypogonadism, ophthalmological refractory error, and facial features of Prader-Willi syndrome, which was further confirmed by genetic analysis. He is currently on lifestyle intervention, testosterone replacement, and treatment for vitamin D deficiency. CONCLUSION: Prader-Willi syndrome should be considered in a child who presents with progressive weight gain and other typical clinical features such as cognitive impairment, excessive insatiable eating, or hypothalamic hypogonadism. Early lifestyle intervention may help to reduce excessive weight gain. To our knowledge, this is the first case reported in Ethiopia.


Assuntos
Disfunção Cognitiva , Hipogonadismo , Síndrome de Prader-Willi , Adolescente , Humanos , Masculino , Etiópia , Hipogonadismo/diagnóstico , Síndrome de Prader-Willi/complicações , Síndrome de Prader-Willi/diagnóstico , Síndrome de Prader-Willi/genética , Aumento de Peso
2.
Ethiop J Health Sci ; 32(2): 229-234, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35693572

RESUMO

Background: Acute ischemic stroke has been reported to occur in a significantly higher number of COVID-19 patients as compared to healthy controls with variable proposed pathophysiologic mechanisms. To our knowledge, sufficient data regarding this subject is lacking in Ethiopia and the African continent at large. In this case series, we report the clinical characteristics and management of 5 cases with COVID-19 infection and acute ischemic stroke to shed light on the diagnostic and therapeutic challenges in resource-limited setups. Methods: This is a case series including data collected from the medical records of 5 participants with confirmed RT-PCR positive COVID-19 infection and radiologically confirmed acute ischemic stroke, admitted at Eka Kotebe General Hospital Intensive Care Unit (ICU) in Addis Ababa, Ethiopia from June 10, 2020, to November 04, 2020. Results: Cryptogenic stroke was documented in 4/5 participants included in this series with the most common vascular risk factors identified for stroke being hypertension and diabetes mellitus. The median time from onset of COVID-19 symptoms to the identification of stroke was 07 days. Two fifth of the participants in this series died during their ICU admission with the immediate cause of deaths reported to be related to the severe COVID-19 infection but not stroke. Conclusion: Cryptogenic stroke was documented in 4/5 patients in this series despite the presence of vascular risk factors for other stroke subtypes. The overall prevalence, subtypes, and outcomes of stroke in COVID-19 patients in Ethiopia and the African continent as a whole needs additional research to elucidate the local burden of the disease and define the predominant pathophysiologic mechanisms for stroke in COVID-19 in the region.


Assuntos
COVID-19 , AVC Isquêmico , Acidente Vascular Cerebral , COVID-19/epidemiologia , Etiópia/epidemiologia , Hospitais Gerais , Humanos , AVC Isquêmico/epidemiologia , AVC Isquêmico/etiologia , Acidente Vascular Cerebral/epidemiologia , Acidente Vascular Cerebral/etiologia
3.
Ethiop. j. health sci. (Online) ; 32(2): 229-234, 2022.
Artigo em Inglês | AIM (África) | ID: biblio-1366924

RESUMO

BACKGROUND: Acute ischemic stroke has been reported to occur in a significantly higher number of COVID-19 patients as compared to healthy controls with variable proposed pathophysiologic mechanisms. To our knowledge, sufficient data regarding this subject is lacking in Ethiopia and the African continent at large. In this case series, we report the clinical characteristics and management of 5 cases with COVID-19 infection and acute ischemic stroke to shed light on the diagnostic and therapeutic challenges in resource-limited setups. METHODS: This is a case series including data collected from the medical records of 5 participants with confirmed RT-PCR positive COVID-19 infection and radiologically confirmed acute ischemic stroke, admitted at Eka Kotebe General Hospital Intensive Care Unit (ICU) in Addis Ababa, Ethiopia from June 10, 2020, to November 04, 2020. RESULTS: Cryptogenic stroke was documented in 4/5 participants included in this series with the most common vascular risk factors identified for stroke being hypertension and diabetes mellitus. The median time from onset of COVID-19 symptoms to the identification of stroke was 07 days. Two fifth of the participants in this series died during their ICU admission with the immediate cause of deaths reported to be related to the severe COVID-19 infection but not stroke. CONCLUSION: Cryptogenic stroke was documented in 4/5 patients in this series despite the presence of vascular risk factors for other stroke subtypes. The overall prevalence, subtypes, and outcomes of stroke in COVID-19 patients in Ethiopia and the African continent as a whole needs additional research to elucidate the local burden of the disease and define the predominant pathophysiologic mechanisms for stroke in COVID-19 in the region


Assuntos
Humanos , Masculino , Feminino , Diagnóstico Clínico , AVC Isquêmico , COVID-19 , Gerenciamento Clínico
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