Hereditary Sensory Autonomic Neuropathy II, a rare disease in a large Pakistani family.
J Pak Med Assoc
; 65(10): 1128-30, 2015 Oct.
Article
em En
| MEDLINE
| ID: mdl-26440849
ABSTRACT
Hereditary Sensory Autonomic Neuropathy II (HSAN II) is a rare genetic disorder, characterized by severe loss of pain, temperature and touch sensation. Injuries in these patients can progress to necrosis and shedding of digits and limbs. Here we report two cases of HSAN II belonging to a Pakistani family. Individual 1, a forty five year old man, had complete loss of pain sensation since birth. Self-mutilation and complication of injuries resulted in the shedding of all the digits and right foot and surgical amputation of left leg. Individual 2, a five year old girl,had delay in healing of wounds and self-mutilation. Examination showed a complete lack of pain sensation throughout her body and hyporeflexia. As the genetic cause of HSAN II is unknown, identification of more patients will allow further research on this disease and possibly develop a cure.
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Base de dados:
MEDLINE
Assunto principal:
Automutilação
/
Neuropatias Hereditárias Sensoriais e Autônomas
/
Doenças Raras
Tipo de estudo:
Etiology_studies
/
Prognostic_studies
Limite:
Child, preschool
/
Female
/
Humans
/
Male
/
Middle aged
País/Região como assunto:
Asia
Idioma:
En
Revista:
J Pak Med Assoc
Ano de publicação:
2015
Tipo de documento:
Article