JAFES-Booklet (English - pdf - 1103 Kb) - MEMS

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Osteogenesis Imperfecta : A Case Report Janet YH Hong , Jagdev S, Eugene CL Yeoh, Leong JJ, Fuziah MZ. Paediatric Department Hospital Putrajaya, Malaysia. Introduction: Osteogenesis imperfecta (OI) is a rare genetic disorder usually caused by a dominant mutation to type 1 collagen genes. The clinical expression is usually polymorphic and is characterised by increased osseous fragility, low bone mass, recurrent fractures leading to severe immobilising deformities in patients. Other features include bluish sclera, dwarfism, ligament laxity, dentinogenesis imperfecta, deafness and cardiopulmonary diseases. We report a neonate with OI type III presenting with severe bony manifestations at birth. Case Report: A term male infant delivered via spontaneous vertex delivery was referred for bilateral lower limb deformities. His mother also had history of bilateral lower limb fractures at birth. A routine antenatal scan showed shortening and bowing of long bones. Clinical examination revealed bilateral lower limb deformity associated with bowing. There was a swelling over the distal part of the left arm. Radiograph showed multiple bone fractures involving the ribs, left humerus, bilateral femurs, tibia and fibula in different stages of healing. There was no blue sclera and systemic examination was unremarkable. Serum calcium, phosphate and alkaline phosphatase levels were normal. Ultrasound of the brain was normal. The infant was discharged on 5th day of life with immobilisation of the left arm. A repeat radiograph at 18th day of life showed callous formation and healing of left humerus with no new fracture. Conclusion: OI requires utmost care and attention from a multidisciplinary team. Intranatal detection of this condition may enable reduction of unnecessary iatrogenic trauma during delivery. This patient will likely to benefit from bisphosphonate therapy. 31
The Case Of A Troubled Patient, Troubling Doctors With Troublesome Problems NL Adam, SS Lim, K Nair, V Ananda, ATB Tan, M Badrulnizam, S Sharma, Rokiah P, SP Chan. Abstract Vasoactive intestinal peptide producing tumour (VIPoma) or Verner-Morrison Syndrome is a very rare neuroendocrine tumour. It occurs in less than 10% of pancreatic islet cell tumours. About 70 to 80% originate from the pancreas. At presentation, 60% of the cases have usually metastasized either to lymph nodes, liver, bone or lung. The first line treatment is surgical. It may be curative in 40% of patients with benign and non-metastatic disease. Palliative surgery of the primary tumour is indicated when the tumour is not completely respectable, followed by conventional somatostatin analogue, (octreotide), therapy. Somatostatin analogues have a role in improving hormone mediated symptoms, reducing tumour bulk and preventing local and systemic effects. Here, we would like to present a case of VIPoma which has metastasized to the liver at diagnosis that poses a management dilemma. The patient presented with a history of chronic diarrhoea. She had been previously seen by many surgeons and thorough investigations had been carried out. The symptoms portrayed and investigations done were very suggestive of VIPoma. She underwent a palliative Whipple’s procedure and subsequently, had cytoreductive radiofrequency ablation (RFA) to her liver metastases. However, the liver metastases did not respond to the ablation therapy. On the contrary, new liver lesions were noted. She continues to have persistent severe secretory diarrhea. Other alternative therapies such as combination chemotherapy using streptozosin and 5- Flurouracil have limited roles in the management of VIPoma but may have to be considered. She has refused more chemotherapy. Somatostatin analogue, octreotide has been used to control hormone mediated symptoms, as anti-proliferative effect as well as to control tumour growth. Patients with VIPoma had symptomatic relief in about 80% and up to 70% has been reported to have reduction in VIP level. Octreotide 200-450 mcg/day associated with 60% symptomatic, 70% biochemical and 5-10% tumour response. Stabilization of tumour growth documented by CT occurs in 30-50% pts. However, tachyphylaxis may develop after prolong treatment and require escalating dose of octreotide. Newer somatostatin analogue with more affinity to somatostatin receptors has been used with encouraging result, such as SOM-230 or Passeriotide. Octreotide was also administered to alleviate her symptoms. The symptoms have reduced in frequency but not completely aborted. Currently she is on octreotide daily, achieving partial control of her symptoms. 32
Page 1 and 2: Vol 24, No 1 (SUPPLEMENT) ISSN 0857
Page 3 and 4: CLINICAL TRIALS AND STUDIES
Page 5 and 6: A Randomized Control Trial To Asses
Page 7 and 8: Abnormal Glucose Tolerance In Tanju
Page 9 and 10: Binge Eating Behavior And The Prefe
Page 11 and 12: Gene Expression Profiling Associate
Page 13 and 14: Growth Hormone Deficiency And Cogni
Page 15 and 16: Prolonged QTc Interval Is Not Uncom
Page 17 and 18: Prevalence Of Glucose Intolerance I
Page 19 and 20: Role of Adrenal Venous Sampling in
Page 21 and 22: The Prevalence Of Metabolic Syndrom
Page 23 and 24: Treatment Outcome And Complications
Page 25 and 26: CASE REPORTS 22
Page 27 and 28: A Case Of Persistent Parathyroid Ca
Page 29 and 30: Bilateral Adrenal Hyperplasia In Mu
Page 31 and 32: Carney Complex: Cardiac Myxoma And
Page 33: McCune-Albright Syndrome Dr. Suhaim
Page 37: TSH- Secreting Pituitary Macroadeno

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