MonoMac syndrome with associated neurological deficits and longitudinally extensive cord lesion.
BMJ Case Rep
; 20182018 Apr 21.
Article
en En
| MEDLINE
| ID: mdl-29680795
ABSTRACT
We present a case of monocytopaenia and mycobacteria-related infection (MonoMac) syndrome in a 30-year-old man of Indian origin. The clinical diagnosis of GATA2 haploinsufficiency was suspected after an unusual neurological presentation on a background of myelodysplastic syndrome and childhood pulmonary tuberculosis. The patient had a longitudinally extensive spinal cord lesion and a lesion in the medulla. No obvious infective cause for the spinal cord MRI abnormality was found, and the lesions were presumed to be inflammatory in nature. The family history consisted of autosomal dominant clinical features suggestive of GATA2 haploinsufficiency. Genetic testing in peripheral leucocytes revealed a pathogenic mutation in GATA2 This is the first-ever published case of possible MonoMac syndrome with a neurological presentation. The case highlights the rarity and complexity of the diagnosis and the clinical sequelae that ensued with the patient dying of gram-negative septicaemia while receiving intravenous steroid therapy for the spinal cord lesion.
Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Enfermedades de la Médula Espinal
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Síndromes Mielodisplásicos
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Factor de Transcripción GATA2
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Haploinsuficiencia
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Síndromes de Inmunodeficiencia
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Infecciones por Mycobacterium
Tipo de estudio:
Diagnostic_studies
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Risk_factors_studies
Límite:
Adult
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Humans
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Male
Idioma:
En
Revista:
BMJ Case Rep
Año:
2018
Tipo del documento:
Article
País de afiliación:
Australia