A rare syndrome of rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD) has been recently described. We report the first patient with this syndrome in Southeast Asia and review reported cases to date. Our patient was good health with normal development until the age of 2. He then developed hyperphagic obesity, hypersomnolence, seizures, alveolar hypoventilation, central hypothyroidism, sodium and water dysregulation, gastrointestinal dysmotility, strabismus, disordered temperature and irregular heart rate, altered sweating, delayed puberty, mental retardation and recurrent respiratory tract infections. The cardiomyopathy with heart failure and abnormal cerebral spinal fluid (CSF) neurotransmitter analysis present in our patient have not been reported previously. Tumours of the sympathetic nervous system are known to be associated with this syndrome but had not been found in our patient at the time of reporting. We highlight the difficulty of achieving the diagnosis of ROHHAD syndrome and its overlap with other well-established disease entities. The mortality and morbidity resulting from the high incidence of cardiorespiratory arrest may be prevented by early ventilatory support.
A 38 year old lady with a previous history of an ovarian cyst, presented with a one week history of fever, diarrhoea and intense localized pain in the left iliac fossa. Laparotomy revealed a left tuboovarian abscess with adherent bowels. Pus from the ruptured cyst grew Salmonella enteritidis. Histologically the cyst wall showed haemorrhagic and degenerate endometriotic features. Recovery was uneventful with cefotaxime and metronidazole.
A 65 year old man presented with a right upper cervical mass. A diagnosis of pleomorphic adenoma was reported on fine needle aspiration cytology (FNAC). CT scan however reported an intramuscular sternocleidomastoid swelling. The tumor was excised and a diagnosis of nodular fasciitis was made. It is important to be aware of this diagnosis and that FNAC reports may mimic that of a pleomorphic adenoma.
Matched MeSH terms: Diagnosis, Differential; Fasciitis/diagnosis*; Head and Neck Neoplasms/diagnosis; Adenoma, Pleomorphic/diagnosis
We describe a 5-year-old girl who had sudden onset difficulty in walking after 3 days of febrile illness. In the emergency department her creatine kinase level was elevated but urine myoglobin was normal. She was diagnosed as having benign acute childhood myositis. Because of poor oral intake and dehydration, she was admitted to the pediatric ward. The next day she had a petechial rash over the antecubital fossa, and dengue IgM back was positive. She was treated conservatively and recovered uneventfully. Despite dengue fever being endemic in Malaysia, this is the first case report of myositis following dengue infection in Malaysia.
Membranous glomerulonephritis (MGN) is one of the common forms of nephrotic syndrome in the adult population. The majority of MGN are idiopathic, but the secondary forms can be seen in the setting of autoimmune disease, neoplasia, infection and following exposure to certain therapeutic agents. Histologically, MGN is an immunologically mediated disease in which immune complexes deposit in the subepithelial space. Syphilis is a venereal disease that can also be acquired by exposure to infected blood. Untreated syphilis may progress and develop renal complications such as membranous glomerulonephritis (MGN) or diffuse endocapillary glomerulonephritis with or without crescent formation. Today, with increasing awareness of sexually transmitted diseases especially HIV infection coupled by the practice of protected sexual intercourse and advancement of medicine, we have seen fewer and fewer cases of acquired syphilis. Furthermore, majority will present with typical syphilitic symptoms of such as chancre, rash, fever and lymph node enlargement in which case the diagnosis is easily obtained. We are reporting a case of acquired syphilis masquerading as membranous glomerulonephritis without typical syphilitic symptoms.
Obturator hernia is a rare clinical entity usually presenting with strangulation. Preoperative diagnosis is seldom made and this has contributed to a high. mortality. One should suspect a strangulated obturator hernia in an elderly thin female patient presenting with vague abdominal symptoms or intestinal obstruction associated with a positive Howship-Romberg sign. Urgent laparotomy is indicated to establish the diagnosis and for resection of bowel if indicated.
Meningiomas are neoplasm arising from meningoepithelial cells, most commonly in the fifth to sixth decade of life. Meningiomas are rare in paediatric population, accounting for 0.4-4.1% of all paediatric tumours and less than 3% of paediatric brain tumours. However, meningiomas represent the most common dural based tumours in children. We describe a rare case of paediatric fibroblastic meningioma within the left middle cranial fossa masquerading as an intra-axial mass lesion. Our discussion will be centred on atypical features of paediatric meningiomas and differential diagnosis of extra-axial mass lesion in the paediatric population.
Spontaneous unilateral orbital haematoma in children is not common and very rarely caused by scurvy. Scurvy is a clinical syndrome with a spectrum of clinical manifestations due to severe prolonged vitamin C deficiency leading to impairment of collagen synthesis over skin, bone, teeth and blood vessels. This paper presents a unique case of a 7- year-old girl with learning difficulty who presented with spontaneous right proptosis due to scurvy. Imaging studies suggestive of intra- orbital extraconal haemorrhage. The child was treated with a higher than recommended dose of vitamin C initially in emergency situation. She responded well and discharged without complication. Spontaneous orbital haematoma due to scurvy is very rare with less than 10 cases published in literature. The present case should raise the awareness regarding this forgotten disease and importance of balance nutrition amongst children.
Schwannomas are mesenchymal tumors that are characteristically benign and slow growing, which originate from any nerve with Schwann cell sheath. Gastrointestinal schwannomas are rare with distinct morphologic features as compared to schwannomas of soft tissue or central nervous system. A 77-year-old male patient was diagnosed with gastrointestinal stromal tumor based on radiological findings and clinical impression when he presented with worsening abdominal discomfort and pain. He underwent distal gastrectomy however histopathological examination of the tumour revealed schwannoma. This case report presents a rare case of a symptomatic gastric schwannoma, whose definitive diagnosis was established by histopathological and immunohistochemical findings postoperatively.
Background Plasma-free metanephrines (PFM) or urinary fractionated metanephrines (UFM) are the preferred biochemical tests for the diagnosis of phaeochromocytoma and paraganglioma (PPGL). Borderline increased results should be followed up to either exclude or confirm diagnosis. Methods We extracted all PFM and UFM results reported by our laboratory over a six-month period from the laboratory information system. We categorized patients with borderline increased results according to whether follow-up testing had been performed as suggested in the initial laboratory report. Questionnaires were then sent to all requesting doctors and medical notes reviewed where available. Results Two hundred and four patients with borderline increased PFM or UFM were identified. Sixty-five (38.5%) of 169 patients with borderline increased PFM had a repeat test out of which 36 were normal and 29 did not normalize. Of 35 patients with borderline increased UFM, 17 (48.6%) had subsequent PFM measurement, out of which 15 were normal. Questionnaires were returned to 106 (52%) patients. Of these, the most frequent indication for testing was hypertension ( n = 50); 15 patients had an incidental adrenal mass and two of these patients were diagnosed with a phaeochromocytoma. Conclusion Only 38% of patients with borderline increased PFM had a repeat PFM measurement. This was not significantly higher when compared with the 28% in a previous audit that we reported in 2010 ( P = 0.10). Forty-nine per cent of patients with a borderline increased UFM had a repeat UFM or PFM measurement. There remains a substantial possibility of missed detection of PPGL.
Numerical anomalies, either addition or deletion, are quite a common findings in human dentition. However, it is extremely rare to find both hypodontia and hyperdontia simultaneously in the same individual. This condition is referred as concomitant hypohyperdontia (CHH). Aetiology of this condition is still obscure. The prevalence of CHH has been reported to be between 0.002% and 3.1%. This case report highlights a rare occurrence of bimaxillary CHH represented by the absence of both mandibular central incisors and presence of two supernumerary teeth in the maxillary anterior segment. The rarity of such condition of mixed hypodontia as well as hyperdontia in single human dentition prompted the author to report the case.
We present a case of a middle-aged woman with a mass in the posterior third of the tongue which was diagnosed as a tongue haemangioma. The tumour was successfully excised via a midline mandibular osteotomy and tongue splitting approach. The histopathology examination, however, revealed the 5x4 cms mass to be a lingual thyroid. The salient features of this unusual presentation of a thyroid enlargement will be discussed.
Comment in: Ng CS, Mohd MS. Lingual thyroid--a lesson to learn. Med J Malaysia. 2005
Mar;60(1):115
Enteric duplication is an uncommon malformation of the gastrointestinal tract which is either asymptomatic or presents with vague symptoms mimicking other more common pathology. It is most commonly diagnosed when complications such as bleeding, intestinal obstruction or perforation occurs. This is a case report of a patient with this condition presenting with right iliac fossa pain and localised peritonitis mimicking acute appendicitis.