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2.
Cureus ; 14(8): e27576, 2022 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-36059322

RESUMEN

Woodhouse-Sakati syndrome is a rare, autosomal recessive, multisystemic disorder first identified as a constellation of hypogonadism, mental retardation, diabetes, alopecia, deafness, and electrocardiogram abnormalities.  We report a case of a 33-year-old woman who was born to consanguineous parents. She is suffering from hypergonadotropic hypogonadism, extrapyramidal symptoms, hypothyroidism, alopecia, and sensorineural hearing loss. Her MRI showed iron depositions in globus pallidus bilaterally. She underwent genetic testing and was diagnosed with Woodhouse-Sakati syndrome. She was started on trihexyphenidyl to treat her extrapyramidal symptoms. A few months later, she started to have psychotic symptoms in the form of auditory hallucinations and delusions of persecution.  Although she exhibited psychotic symptoms after starting trihexyphenidyl, it is less likely to be causing her symptoms since the symptoms started a few months after taking the medication and she was not on high doses. Thus, it is more likely to be a part of Woodhouse-Sakati syndrome.

3.
Cureus ; 14(1): e21315, 2022 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-35186574

RESUMEN

Elastofibroma is a benign soft tumor that is composed of elastic fibers in a background of collagenous and adipose tissue. However, the presence of multiple elastofibromas is considered a rare occasion. We report the case of a 39-year-old man who presented to our general practice clinic with a complaint of upper back swelling for the last three months. The swelling was completely painless. It was not associated with ulceration of the overlying skin. He reported that the swelling had not been increasing in size. There was no history of anorexia, weight loss, or preceding trauma. On examination, both shoulders had a normal range of motion with no restriction due to the mass lesions. To further characterize the mass lesions, the patient underwent a computed tomography scan of the thorax. It demonstrated bilateral lenticular subscapular mass lesions that were ill-defined but had similar attenuation to that of adjacent skeletal muscle along with the presence of interspersed streaks of fat. Such findings represent the diagnosis of elastofibroma. However, the patient was concerned about the possibility of the malignant nature of these lesions and insisted on having the surgical resection of the mass. The histopathological findings confirmed the diagnosis of elastofibroma. Elastofibroma is a benign soft tissue tumor that is diagnosed incidentally in the majority of cases. However, multiple elastofibroma, as in the present case, is considered unusual. The case demonstrated the radiological and histopathological features of elastofibroma. The imaging findings are characteristics and can prevent unnecessary biopsy or surgical intervention. However, if clinically indicated, surgical resection is considered curative.

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