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A Case of Gorlin-Goltz Syndrome Presented with Psychiatric Features

We report a case of a 34-year-old male who presented with an acute onset of pleomorphic psychiatric features. Upon examination we later diagnosed him with Gorlin-Goltz syndrome based on clinical and radiological findings that are characteristic for this rare autosomal dominant syndrome. His psychiat...

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Autores principales: Mufaddel, Amir, AlSabousi, Mouza, Salih, Badr, AlHassani, Ghanem, Osman, Ossama T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4006609/
https://www.ncbi.nlm.nih.gov/pubmed/24803734
http://dx.doi.org/10.1155/2014/830874
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author Mufaddel, Amir
AlSabousi, Mouza
Salih, Badr
AlHassani, Ghanem
Osman, Ossama T.
author_facet Mufaddel, Amir
AlSabousi, Mouza
Salih, Badr
AlHassani, Ghanem
Osman, Ossama T.
author_sort Mufaddel, Amir
collection PubMed
description We report a case of a 34-year-old male who presented with an acute onset of pleomorphic psychiatric features. Upon examination we later diagnosed him with Gorlin-Goltz syndrome based on clinical and radiological findings that are characteristic for this rare autosomal dominant syndrome. His psychiatric manifestations included irritability, aggressive behavior, labile mood, hallucinations, paranoid delusions, and transient cognitive impairment. His past history indicated surgical excision of pigmented lesion in the left lower eyelid which turned out to be a basal cell carcinoma. His past visits to dermatology clinics indicated pitted keratosis involving hands, callosities, and seborrheic dermatitis. There were numerous palmar pits, and Brain CT Head scan revealed extensive calcification along falx cerebri and around the cerebellar vermis. He had low (20 ng/L) vitamin D level and high parathyroid hormone level. The patient improved using antipsychotic medications and vitamin D supplementations for symptomatic management and was discharged with a plan for multispecialty outpatient follow-up. This case highlights the importance of considering rare organic etiologies in the differential diagnosis of patients presenting with psychiatric symptoms. This is of vital importance for early intervention to prevent complications and for better outcomes of the coexistent diseases.
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spelling pubmed-40066092014-05-06 A Case of Gorlin-Goltz Syndrome Presented with Psychiatric Features Mufaddel, Amir AlSabousi, Mouza Salih, Badr AlHassani, Ghanem Osman, Ossama T. Behav Neurol Case Report We report a case of a 34-year-old male who presented with an acute onset of pleomorphic psychiatric features. Upon examination we later diagnosed him with Gorlin-Goltz syndrome based on clinical and radiological findings that are characteristic for this rare autosomal dominant syndrome. His psychiatric manifestations included irritability, aggressive behavior, labile mood, hallucinations, paranoid delusions, and transient cognitive impairment. His past history indicated surgical excision of pigmented lesion in the left lower eyelid which turned out to be a basal cell carcinoma. His past visits to dermatology clinics indicated pitted keratosis involving hands, callosities, and seborrheic dermatitis. There were numerous palmar pits, and Brain CT Head scan revealed extensive calcification along falx cerebri and around the cerebellar vermis. He had low (20 ng/L) vitamin D level and high parathyroid hormone level. The patient improved using antipsychotic medications and vitamin D supplementations for symptomatic management and was discharged with a plan for multispecialty outpatient follow-up. This case highlights the importance of considering rare organic etiologies in the differential diagnosis of patients presenting with psychiatric symptoms. This is of vital importance for early intervention to prevent complications and for better outcomes of the coexistent diseases. Hindawi Publishing Corporation 2014 2014-03-10 /pmc/articles/PMC4006609/ /pubmed/24803734 http://dx.doi.org/10.1155/2014/830874 Text en Copyright © 2014 Amir Mufaddel et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Mufaddel, Amir
AlSabousi, Mouza
Salih, Badr
AlHassani, Ghanem
Osman, Ossama T.
A Case of Gorlin-Goltz Syndrome Presented with Psychiatric Features
title A Case of Gorlin-Goltz Syndrome Presented with Psychiatric Features
title_full A Case of Gorlin-Goltz Syndrome Presented with Psychiatric Features
title_fullStr A Case of Gorlin-Goltz Syndrome Presented with Psychiatric Features
title_full_unstemmed A Case of Gorlin-Goltz Syndrome Presented with Psychiatric Features
title_short A Case of Gorlin-Goltz Syndrome Presented with Psychiatric Features
title_sort case of gorlin-goltz syndrome presented with psychiatric features
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4006609/
https://www.ncbi.nlm.nih.gov/pubmed/24803734
http://dx.doi.org/10.1155/2014/830874
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