Difficulties in the Diagnosis of Gaucher Disease in a Low-Income Country: A Case Report from Mozambique

Abstract Introduction: Gaucher disease (GD) is one of the common lysosomal storage disorder (LSD) with an estimated frequency of one in 40,000 newborns globally. GD is an autosomal recessive condition, which results from mutations in the GBA1 gene, causing partial or complete deficiency of β-glucocerebrosidase enzyme activity, which leads to the widespread accumulation of the substrate glucosylceramide. Aims: This report presents different challenges of clinical management and communication between medical specialties to reach diagnose of any rare disease in Mozambique, a low-income country, which health system has limited infrastructure, trained personnel, and budget for diagnosis and to provide treatment for rare genetic disorders such as GD. Case Presentation: The patient was a 15-year old black female patient of Mozambican nationality born from non-consanguineous parents. Three of the four patient's siblings were healthy; one sister had died of a disease with a similar clinical features. Our patient presented with abdominal distention and hepatosplenomegaly. Blood tests revealed pancytopenia and a high level of ferritin. Liver biopsy and histologic examination revealed infiltration of the splenic parenchyma and portal area of the liver as well as enlarged histiocytic cells with granular cytoplasm. Magnetic resonance imaging showed liver enlargement, changes in the femoral heads without osteonecrosis, a pathological fracture of the third thoracic vertebrae (T3), with absence of brain and spinal cord neurological abnormalities. The biochemical investigation disclosed low levels of β-glucocerebrosidase (0.223 nmol/h/ml; normal: above 0.98) and increased levels of lyso-Gb1 (0.43 µg/ml; normal: up to 0.003). Genotyping of the GBA1 gene indicated the presence of the pathogenic variant p.Arg87Trp (R48W) in homozygosis. Discussion and Conclusion: To the best of our knowledge, this report describes the first case of GD type 1 confirmed via biochemical and molecular genetic testing in Mozambique. As awareness of the GD and rare genetic diseases among Mozambican health professionals is very limited, and resources for diagnosis are scarce in the national health system, it is possible that other cases remain undiagnosed in this low-income country.

Quiste óseo aneurismático: Presentación de un caso / Aneurysmal Bone Cyst: Case Report

El quiste óseo aneurismático es una lesión expansiva, de pared fina, de contenido quístico, y con niveles líquido-líquido. Su etiología es incierta, suele asociarse a traumatismo, probablemente debido a obstrucción venosa o a la formación de fístulas que se producen tras la contusión. Los pacientes refieren dolor, que puede ser de comienzo insidioso o abrupto debido a una fractura patológica. Los quistes óseos aneurismáticos se clasifican, según su etiología, en primarios o secundarios a una lesión subyacente, como displasia fibrosa, condroblastoma, tumor de células gigantes u osteosarcoma. Se presenta el caso de una paciente que consulta por dolor localizado en la región plantar izquierda, no asociado a traumas, a quien se le diagnosticó un quiste óseo aneurismático, con hallazgos definitivos en resonancia magnética (RM) y comprobación histológica.

The aneurysmal bone cyst is an expansive, thin-wall lesion with cystic content, and with the presence of liquid-liquid levels. Its etiology is uncertain, usually associated with trauma, probably due to a venous obstruction or the formation of fistulas that are produced by contusion. Patients report pain, which may be of insidious onset or abrupt onset due to a pathological fracture. Aneurysmal bone cysts are classified according to their etiology in primary, or secondary to an underlying lesion, such as fibrous dysplasia, chondroblastoma, giant cell tumor or osteosarcoma. We present the case of a patient who consulted for pain located in left plantar region, not associated with trauma, who was diagnosed with an aneurysmal bone cyst, with definitive magnetic resonance findings and histological verification.

The critical value concept in clinical laboratory / O conceito de valores críticos no laboratório clínico

ABSTRACT The critical value is a laboratory result representing a pathophysiological state that offers risk to a patient's life. The communication of these results is a laboratory responsibility and, according to the literature, 95% of physicians consider it useful in decision-making and patient management. Two-thirds of critical results lead to some change in therapeutic approach. The communication of critical results is a requirement for laboratory accreditation programs. Thus laboratories should establish a list of tests, their critical values, and the procedure describing the communication flow. The performance indicator for this activity should consider the time between results release and their effective communication, and the percentage of successful communication. There is no standardization of laboratory parameters that need to have critical values established, not even the ranges to be considered for notification purposes. The frequent update of test lists and critical value ranges based on literature reviews and on experience exchange among clinical laboratories ensure the continuous improvement process for this procedure and patient safety.

RESUMO O valor crítico é um resultado laboratorial que representa um estado fisiopatológico de risco à vida do paciente. A comunicação desses resultados é de responsabilidade do laboratório e, segundo a literatura, 95% dos médicos a considera útil na adoção de condutas e no manuseio dos pacientes. Dois terços dos resultados críticos resultam em alguma mudança na conduta terapêutica. A comunicação dos resultados críticos é um procedimento previsto nas listas de verificação dos programas de acreditação laboratorial, portanto o laboratório deve estabelecer a lista dos exames, os respectivos valores críticos e o procedimento, descrevendo o fluxo de comunicação. O indicador de desempenho para esta atividade deve considerar o tempo decorrido entre a liberação do resultado e a sua efetiva comunicação e o percentual de sucesso na comunicação. Não existe padronização acerca dos parâmetros laboratoriais que necessitam ter valores críticos estabelecidos, nem mesmo os intervalos a serem considerados para fins de notificação. A atualização frequente da lista de exames e dos intervalos de valores críticos com base na revisão da literatura e na troca de experiências entre os laboratórios clínicos garante o processo de melhoria contínua para esse procedimento e a segurança do paciente.