Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029089 (ophthalmoplegia)
 3,338 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Mitochondrial disorders (MIDs) occasionally manifest as polyneuropathy either as the dominant feature or as one of many other manifestations (inherited mitochondrial neuropathy). MIDs in which polyneuropathy is the dominant feature, include NARP syndrome due to the transition m.8993T>, CMT2A due to MFN2 mutations, CMT2K and CMT4A due to GDAP1 mutations, and axonal/demyelinating neuropathy with external ophthalmoplegia due to POLG1 mutations. MIDs in which polyneuropathy is an inconstant feature among others is the MELAS syndrome, MERRF syndrome, LHON, Mendelian PEO, KSS, Leigh syndrome, MNGIE, SANDO; MIRAS, MEMSA, AHS, MDS (hepato-cerebral form), IOSCA, and ADOA syndrome. In the majority of the cases polyneuropathy presents in a multiplex neuropathy distribution. Nerve conduction studies may reveal either axonal or demyelinated or mixed types of neuropathies. If a hereditary neuropathy is due to mitochondrial dysfunction, the management of these patients is at variance from non-mitochondrial hereditary neuropathies. Patients with mitochondrial hereditary neuropathy need to be carefully investigated for clinical or subclinical involvement of other organs or systems. Supportive treatment with co-factors, antioxidants, alternative energy sources, or lactate lowering agents can be tried. Involvement of other organs may require specific treatment. Mitochondrial neuropathies should be included in the differential diagnosis of hereditary neuropathies.
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PMID:Inherited mitochondrial neuropathies. 2140 91

We present the case of a 68-year old gentleman with previously diagnosed myelodysplastic syndrome with pancytopenia who presented with exophthalmia, rhinorrhea, and ophthalmoplegia. Nasal endoscopy revealed black necrotic lesions. He was diagnosed with rhino-orbital mucormycosis and commenced on intravenous antifungals. Despite this therapy he progressed to have total unilateral loss of visual acuity and cutaneous necrosis. He underwent emergency orbital exenteration and extensive cheek and sinus debridement. Necrotic lesions were found in the orbit, the maxillary and ethmoidal sinuses. He underwent reconstruction of this defect using a free myocutaneous ALT flap with a segment of vastus lateralis. Prior to surgery his anemia and thrombocytopenia were addressed with packed red cell and platelet transfusions as well as preoperative thromboelastography (TEG) to measure functional fibrinogen to platelet ratio. Intraoperative platelet administration was guided by repeated TEG analysis. There were no significant intraoperative or postoperative bleeding complications and both flap and donor site healed unremarkably. Few reports exist in the literature related to free tissue transfer in patients with hematological disorders but low platelet count has been implicated in an increased complication rate.
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PMID:Reconstruction of an extensive peri-orbital defect secondary to mucormycosis in a patient with myelodysplasia. 2323 48