Diabetic cachectic neuropathy: An uncommon neurological complication of diabetes

A 40-year-old female patient with diabetes of 12 years’ duration, with poor drug compliance, presented with a 4-month history of rapid progressive weight loss, burning sensations in the feet, abdominal swelling, and constipation with occasional episodes of epigastric pain. On examination, she was chronically ill-looking with a body mass index of 17.1 kg/m2, grossly distended abdomen (initially mistaken for gravid abdomen). Blood pressure measurements in the supine and standing positions were 200/130 mmHg and 180/100 mmHg, respectively. Neurological examination revealed stocking-pattern loss of pain, temperature, and light touch modalities. Vibration sensation was impaired up to the malleoli bilaterally, with impairment of joint position sense of both big toes. Random blood sugar level was 16.4 mmol/L; glycosylated haemoglobin was 13.2% with a haematocrit of 33.0%. Renal indices, uric acid, liver function tests and fasting lipid profile were all within normal limits. An abdominal ultrasound scan showed distended bowel loops. The vibration perception threshold average using biothesiometry was 27.3 mV

Phaeochromocytoma in early pregnancy: A case report and review of the literature

Phaeochromocytomas are rare neuroendocrine tumors of the adrenal. They are a very rare cause of secondary hypertension. They are very rare in pregnancy and much more so in early pregnancy. In this narrative review, we conducted a MEDLINE search of review articles on phaeochromocytoma from 2000 to 2018 using the key words “phaeochromocytoma, early pregnancy, hypertension, catecholamines, and chromaffin tumors. We identified relevant articles and also looked up key references. We also highlight the challenges and limitations of our management experience in our practice setting. Although phaeochromocytomas are very rare in early pregnancy, a high index of suspicion is needed to make this diagnosis. Otherwise, it may be misdiagnosed as pregnancy induced or related hypertension.Keywords: Phaeochromocytoma, early pregnancy, hypertension, catecholamines, chromaffin tumor

Improving Stroke Management through Specialized Stroke Units in Nigeria: A situational Review

Background: Stroke therapy is aimed at re-opening blocked arteries and increasing the survival of cells that are injured in addition to the early rehabilitation of the stroke patient. The establishment of stroke units has been found to improve the survival of patients and significantly reduce disability by rendering holistic care. Early intervention to rapidly restore and maintain blood supply to the ischemic area in the brain, minimize brain damage and hence impairment as well as disability and secondary complications which will reduce the risk of death is more likely achievable in specialized care settings. The objective of this review is to discuss the role and feasibility of implementing stroke care in specialized stroke units(SSUs).Methods: Key literature detailing the care of stroke patients at the different tier of health institutions in Nigeria and abroad were reviewed using Medline and Google search utilizing the following keywords' Strokeunit; Management; Shared Burden and Nigeria. The difficulties associated with the provision of care for stroke patients in specialized stroke units were identified while the implications and suggestions for the development of such units in Nigeria are addressed.Results: The care of stroke patients remains mainly uncoordinated and usually managed in the general medical wards with suboptimal management. Issues that may affect establishment of specialized Stroke Unit include lack of Neurologists, Geriatricians with special interest in stroke management, allied health professionals and Nurses trained in providing supportive care. The challenges of the start –up cost, and public education in seeking help early enough are also highlighted.Conclusion: The evidence for the need for change from the usual care of stroke patient's in general medical wards to specialized stroke units is undisputable. Establishment of such units in Nigeria is desirable, urgent and feasible. The establishment of these SSUs can be started by having specific designated beds in a section of the medical wards with the care assigned to specially trained medical and allied health providers.Key Words: Sharing; burden; stroke unit; Nigeria

PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.

OBJECTIVE: To identify disease-causing variants in autosomal recessive axonal polyneuropathy with optic atrophy and provide targeted replacement therapy. METHODS: We performed genome-wide sequencing, homozygosity mapping, and segregation analysis for novel disease-causing gene discovery. We used circular dichroism to show secondary structure changes and isothermal titration calorimetry to investigate the impact of variants on adenosine triphosphate (ATP) binding. Pathogenicity was further supported by enzymatic assays and mass spectroscopy on recombinant protein, patient-derived fibroblasts, plasma, and erythrocytes. Response to supplementation was measured with clinical validated rating scales, electrophysiology, and biochemical quantification. RESULTS: We identified biallelic mutations in PDXK in 5 individuals from 2 unrelated families with primary axonal polyneuropathy and optic atrophy. The natural history of this disorder suggests that untreated, affected individuals become wheelchair-bound and blind. We identified conformational rearrangement in the mutant enzyme around the ATP-binding pocket. Low PDXK ATP binding resulted in decreased erythrocyte PDXK activity and low pyridoxal 5'-phosphate (PLP) concentrations. We rescued the clinical and biochemical profile with PLP supplementation in 1 family, improvement in power, pain, and fatigue contributing to patients regaining their ability to walk independently during the first year of PLP normalization. INTERPRETATION: We show that mutations in PDXK cause autosomal recessive axonal peripheral polyneuropathy leading to disease via reduced PDXK enzymatic activity and low PLP. We show that the biochemical profile can be rescued with PLP supplementation associated with clinical improvement. As B6 is a cofactor in diverse essential biological pathways, our findings may have direct implications for neuropathies of unknown etiology characterized by reduced PLP levels. ANN NEUROL 2019;86:225-240