ABSTRACT
BACKGROUND: Primary CoQ deficiency occurs because of the defective biosynthesis of coenzyme Q, one of the key components of the mitochondrial electron transport chain. Patients with this disease present with a myriad of non-specific symptoms and signs, posing a diagnostic challenge. Whole-exome sequencing is vital in the diagnosis of these cases. CASE: Three unrelated cases presenting as either encephalopathy or cardiomyopathy have been diagnosed to harbor a common pathogenic variant c.370Gâ¯>â¯A in COQ4. COQ4 encodes a key structural component for stabilizing the multienzymatic CoQ biosynthesis complex. This variant is detected only among East and South Asian populations. CONCLUSIONS: Based on the population data and our case series, COQ4-related mitochondriopathy is likely an underrecognized condition. We recommend including the COQ4 c.370Gâ¯>â¯A variant as a part of the screening process for mitochondriopathy in Chinese populations.
Subject(s)
Ataxia/diagnosis , Ataxia/genetics , Exome Sequencing , Mitochondria/genetics , Mitochondria/pathology , Mitochondrial Diseases/diagnosis , Mitochondrial Diseases/genetics , Muscle Weakness/diagnosis , Muscle Weakness/genetics , Ubiquinone/deficiency , Ataxia/metabolism , Ataxia/pathology , Female , Genetic Variation/genetics , Humans , Infant , Infant, Newborn , Male , Mitochondria/metabolism , Mitochondrial Diseases/metabolism , Mitochondrial Diseases/pathology , Muscle Weakness/metabolism , Muscle Weakness/pathology , Mutation , Ubiquinone/genetics , Ubiquinone/metabolismSubject(s)
Cytomegalovirus Infections/complications , Mouth Diseases/virology , Retinitis/virology , Administration, Intravenous , Antiviral Agents/administration & dosage , Cytomegalovirus/isolation & purification , Cytomegalovirus Infections/blood , Cytomegalovirus Infections/drug therapy , Female , Ganciclovir/administration & dosage , Humans , Intravitreal Injections , Middle Aged , Mouth Diseases/blood , Mouth Diseases/drug therapy , Retinitis/blood , Retinitis/drug therapy , Viremia/diagnosisABSTRACT
We report a 26-year-old man with 6 years, history of duodenal gastrointestinal stromal tumor (GIST) with liver, peritoneum and lung metastases. He presented with left eye ptosis, diplopia, left facial numbness and a left temporal fossa mass that was confirmed to be GIST with left skull and left orbit metastases. Craniectomy with cranioplasty, tumor excision and decompression were performed. There was an improvement of his visual symptoms and facial numbness. To our knowledge, this is one of the few reports of surgical management of GIST, metastasized to skull and orbit, with good symptomatic relief.
Subject(s)
Decompressive Craniectomy , Duodenal Neoplasms/pathology , Gastrointestinal Stromal Tumors/surgery , Skull Neoplasms/surgery , Adult , Gastrointestinal Stromal Tumors/diagnosis , Gastrointestinal Stromal Tumors/secondary , Humans , Male , Orbital Neoplasms/diagnosis , Orbital Neoplasms/secondary , Orbital Neoplasms/surgery , Skull Neoplasms/diagnosis , Skull Neoplasms/secondaryABSTRACT
BACKGROUND: Systemic anaplastic large cell lymphoma (ALCL) is predominantly a nodal disease, but extranodal involvement can occur during the disease course or as the primary presentation. We report two rare cases of ALCL presenting with a pleural effusion, mimicking primary effusion lymphoma (PEL). CASES: Two patients, a 47-year-old woman and an 81-year-old man, presented with a pleural effusion for investigation. The pleural fluid contained abundant, large, lymphoid cells with marked nuclear atypia. These neoplastic cells strongly expressed CD30 and EMA and showed a T-cell phenotype (CD3+CD45RO+ for case 1 and CD4+ for case 2). Case 1, in addition, showed ALK1 expression. The tumor cells in both cases were negative for human herpes virus type 8 (HHV8) and Epstein-Barr virus (EBV). ALCL shows overlapping cytologic features with PEL, but the T-cell phenotype, ALK1 expression in case 1, lack of association with HHV8 and EBV, HIV seronegativity and subsequent discovery of nodal disease in case 2 were all in favor of ALCL over PEL. CONCLUSION: In rare cases a pleural effusion is the presenting feature of ALCL, and distinction from PEL depends on correlation with clinical findings, detailed immunophenotyping and study of the status of HHV8 and EBV.
