Objective: To describe the diagnosis of an index MEN1 case with a novel mutation. Methods:We present the clinical, laboratory, exam, and imaging findings, along with a review of the literature. Results:A 28-year-old Saudi male presenting with 2 years history of recurrent symptomatic hypoglycemia.Further workup confirmed the clinical and biochemical diagnosis of consistent with MEN1 and genetic testing proved this to be a novel mutation in the gene. Conclusion:This case describes a novel mutation in the MEN1 gene raises the discussion if there will ever be a genotype-phenotype association as in other MEN syndromes.
We report the case of a 74-year-old Asian man who suffered complete anosmia from a severe head and nose trauma complicated by epistaxis following sudden fall to the ground after slipping on the steps without loss of consciousness.The patient is a known case of pre diabetes, obesity, hypertension and chronic heavy smoker. . Four weeks later post fall the patient started having a gradual hypogeusia, loosing (salty, sore and sweet sensation.) followed by complete hypogeusia and anosmia over one month period. One month Post fall he was seen by the ENT specialist at another primary health care center who prescribed him intranasal steroid impregnated gauze packing and anti-histamine tablets and instructed the patient to apply topical steroid lotion to his nasal mucosa on a daily basis for one month using a cotton bud. At follow up the patient reported no improvement .Consequently the patient quality of life significantly decreased. Subsequently he was referred to an ENT consultant at the secondary hospital who prescribed him prednisolone 30 mg daily and cetirizine 10mg for one month along with intranasal mometasone spray along with a neurologist who ordered an MRI for the patient showing nasal septal deviation but no fracture or intracranial lesions. This approach also did not improve the patient sense of taste or smell. The patient was feeling down for 12 months and subsequently he visited a consultant family physician with special interest in the use of natural honey who suggested the use of intranasal application of natural honey as a last resort.During the consultation the patient quality of life was assessed via asking him to fill in the Patient Health Questionnaire (PHQ-9) where he scored 16/24 denoting moderate depression. After signing an informed consent the patient was instructed to place the clear natural honey via a 20 ml gauge syringe in a special modified" prayer to mecca" position or "Hashim position", (the fronto-parital bone of the cranium is touching the ground and the mental protuberance of the mandible is touching the sternum in a flexed neck position). The patient was asked to embrace that position for a total of 10minutes once daily over a four weeks period of time. The patient was counseled about the burning sensation of honey as it runs over the nasal and sinuses mucosal epithelial surfaces. The burning sensation is due to the acidic nature of natural honey. The natural honey used was an organic blossom honey imported from the UK (Wilkin& Sons limited). In the two weeks follow up visit the patient has noticed a dramatic improvement reaching 70%. He was reassured and was asked to continue the same management for a further two weeks. At follow up the patient reported no problems with his sense of taste and smell and has normal flavor perception during eating and drinking but complained of the stinging sensation of honey during the first ten minutes after the intranasal application. Similarly his quality of life has improved dramatically with a score of 2/24 denoting no depression. DiscussionThe pr...
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