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1.
Hum Genome Var ; 11(1): 29, 2024 Aug 15.
Artigo em Inglês | MEDLINE | ID: mdl-39143067

RESUMO

Charcot-Marie-Tooth disease type 2Z is caused by MORC2 mutations and presents with axonal neuropathy. MORC2 mutations can also manifest as developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (DIGFAN). We report a patient exhibiting an intermediate phenotype between these diseases associated with a novel MORC2 variant. A literature review revealed that the genotype‒phenotype correlation in MORC2-related disorders is complex and that the same mutation can cause a variety of phenotypes.

2.
Intern Med ; 62(18): 2743-2746, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37722924

RESUMO

We herein report a 90-year-old immunocompromised woman who developed right upper limb weakness and right ptosis with a miotic pupil 1 week after oral therapy for zoster on the right T2 dermatome. The right pupil was dilated with instillation of 1% apraclonidine, indicating Horner's syndrome. The patient was treated with intravenous acyclovir and methylprednisolone. Focal weakness related to zoster, generally known as segmental zoster paresis, improved over five months, but Horner's syndrome remained. We suggest that aggressive intravenous treatment should be considered for rare cases of zoster that occur with a combination of these two neurological conditions.


Assuntos
Blefaroptose , Herpes Zoster , Síndrome de Horner , Idoso de 80 Anos ou mais , Feminino , Humanos , Aciclovir/uso terapêutico , Herpes Zoster/complicações , Herpes Zoster/diagnóstico , Herpes Zoster/tratamento farmacológico , Síndrome de Horner/complicações , Síndrome de Horner/diagnóstico , Paresia/etiologia
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