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1.
Cureus ; 15(11): e49354, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-38143634

RESUMO

Juvenile monomelic amyotrophy (JMA), also known as Hirayama's disease, is a rare cervical myelopathy that predominantly affects young Asian males. It is characterized by degeneration of anterior horn cells due to compression by the redundant dural sac. This study presents an atypical case of a 23-year-old Indian male who exhibited uncommon symptoms of JMA. The patient displayed progressive weakness and atrophy in the left forearm, including the usually spared brachioradialis muscle. Electrophysiological tests and MRI scans solidified the diagnosis of Hirayama's disease. After wearing a cervical collar for one year, the patient's condition stabilized, reinforcing the diagnosis. Unlike most JMA cases, this instance highlights the involvement of the brachioradialis muscle, underlining the variability in JMA presentations. A precise diagnosis is contingent upon clinical criteria, dynamic MRI, and electrophysiological findings. Recognizing these variations is crucial for early detection and appropriate management of the disease.

2.
BMJ Case Rep ; 16(11)2023 Nov 09.
Artigo em Inglês | MEDLINE | ID: mdl-37945277

RESUMO

This case report presents the clinical evaluation and management of a female patient from a rural background who presented with leg pain, headache, weakness and irritability. Initial investigations revealed iron deficiency anaemia accompanied by a significantly elevated platelet count, prompting suspicion of an underlying myeloproliferative neoplastic disorder. However, subsequent genetic testing ruled out these mutations, suggesting a reactive response to iron deficiency anaemia rather than an independent neoplastic process. Treatment was focused on addressing the underlying iron deficiency anaemia, resulting in significant improvement in the patient's blood profile and resolution of symptoms. Follow-up assessments demonstrated a complete normalisation of the blood profile and platelet counts, further supporting the efficacy of the treatment. This case highlights the importance of considering reactive thrombocytosis in the context of iron deficiency anaemia and emphasises the favourable response achieved through appropriate management strategies.


Assuntos
Anemia Ferropriva , Transtornos Mieloproliferativos , Trombocitose , Feminino , Humanos , Anemia Ferropriva/complicações , Anemia Ferropriva/tratamento farmacológico , Transtornos Mieloproliferativos/complicações , Contagem de Plaquetas , Trombocitose/diagnóstico , Adulto Jovem
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