BMJ case reports
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Myosin heavy chain 9-related disorders (MYH9RD) are a genetic condition characterised by large platelets and thrombocytopaenia. The May-Hegglin anomaly (MHA), an uncommon condition with a potential risk of bleeding complications once thought to be separate, is now known to be part of MYH9RD. There are very limited data on the clinical course and neonatal/paediatric outcome in children with MHA. ⋯ The infant received three platelet transfusions during the first 29 days of life, remaining asymptomatic. The genetic molecular test was positive for MYH9RD. It is important to identify at-risk infants with this condition and to initiate therapy to prevent related complications, if needed, in a multidisciplinary team approach.
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Traumatic abdominal wall hernia (TAWH) is a rare type of hernia occurring secondary to blunt trauma. We report a case of seatbelt-associated TAWH in a 20-year-old woman who was presented to hospital via ambulance following a road traffic collision with a distended abdomen, peritonitis and free gas, with an associated TAWH identified on CT imaging. The patient underwent delayed surgical repair of her hernia using biological mesh, without recurrence, with a clinical course complicated by pregnancy. We use this report to demonstrate late repair as a safe and effective option for management of TAWH in pregnancy, with active surveillance and a multidisciplinary approach by the obstetric, plastic surgery and trauma teams.
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Case Reports
Phytobezoar and duodenal ulcer as complication of Duodopa therapy in a patient affected by Parkinson's disease.
Continuous duodenal infusion of levodopa/carbidopa intestinal gel (LCIG) is an established treatment to control motor fluctuations in Parkinson's disease. Duodenal infusion allows a steady absorption of the drug in the small bowel, reducing plasmatic fluctuations of levodopa. Some complications may occur during the treatment, often related to intrajejunal percutaneous endoscopic gastrostomy (PEG-J). ⋯ In the last 2 weeks, the patient suffered from abdominal pain and dyspepsia. Oesophagogastroduodenoscopy showed an ulcerative lesion of the duodenum due to traction of the jejunal tube; the end of the jejunal tube was wrapped in a phytobezoar. This case is interesting because of the extension of the ulcerative lesion due to PEG-J dislocation and because of the subtle symptoms associated with it.
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Review Case Reports
Lactation ketoacidosis: case presentation and literature review.
A 35-year-old woman presented to the emergency department with a 2 days history of malaise and headache. She was breastfeeding her 5-month old infant and had recently started an altered diet based on reducing carbohydrate amount. Moreover, she had also started exercising 2 weeks prior to her illness. ⋯ She was discharged home and remained well with a balanced diet. After excluding all other the causes of hypoglycaemia and ketoacidosis, the diagnosis of lactation ketoacidosis was made and it was considered triggered by altered diet, exercise and skipping meals. All 11 cases of lactation ketoacidosis which has previously been published are reviewed as well.
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We present a rare case of a 4-year-old boy with newly diagnosed Henöch-Schonlein purpura (HSP) affecting the scrotum and penis. The patient presented to the emergency department with palpable purpura symmetrically distributed over the lower limbs. This was associated with arthritis of the right knee, abdominal pain and scrotal swelling. ⋯ He subsequently re-presented 12 days later with penile swelling, erythema and tenderness. An ultrasound scan of the penis revealed grossly oedematous subcutaneous tissue with normal penile architecture. His symptoms resolved spontaneously and the patient remains under close follow-up by the paediatric team for further sequelae of HSP.