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\title{Type 2 Neurofibromatosis in a Patient Originating in a Twin Pregnancy -Case Report}
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             \author[1]{Lungu  Mihaela}

             \author[2]{Lungu  Mihaela}

             \affil[1]{  UNIVERSITY OF MEDICINE, GALATI, ROMANIA}

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\date{\small \em Received: 14 June 2015 Accepted: 4 July 2015 Published: 15 July 2015}

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\begin{abstract}
        


This case report discusses a 26 year old patient diagnosed with Type 2 Neurofibromatosis (NF), who has a twin sister. The patient exhibits infantile encephalopathy, mental retardation and type 2 NF, while her twin sister is perfectly healthy and does not exhibit any lesions on the neuroimaging examination.

\end{abstract}


\keywords{type 2 nf, twin pregnancy, multiple tumors on the nervous system.}

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\let\tabcellsep& 	 	 		 
\section[{I. Introduction}]{I. Introduction}\par
ype 2 NF is a dominant autosomal hereditary disease triggered by a mutation which inactivates the tumor-suppressor gene on the 22p12 chromosome. Gene mutations may also occur randomly, in infrequent instances of the disease.\par
The disease's occurrence is 30-40 in 100.000, evenly split among genders and half of the patients have first degree relatives who also carry this disease.\par
The role of hormones and growth factors in the disease's pathogenesis is currently unknown.\par
The disease is characterized by the development of benign tumors, mostly in skin, eye, bone and nervous tissue. About 20\% of the tumors can undergo a malign sarcomatous transformation. The neurofibromas in skin tissue grow during late childhood and teenage years. About a third of the patients exhibit apparent cutaneous indicators, while roughly two thirds of the patients require examinations to identify them. These skin neuromas are pressure-sensitive and painful to the touch. Neurological effects typically start around the age of thirty, by exhibiting symptoms triggered by the development of a uni-or bilateral neuroma on the acoustic-vestibular (VIII) nerve: progressive hear loss, vertigo, gait and standing trouble,. Other typical symptoms may include optic nerve gliomas, with blindness, optical atrophy and exophthalmia. The emergence of a neuroma may also affect the trigeminal nerve. In rare situations, the debut can be a spinal neuroma. The neurological symptomatology may evolve through the onset of multiple cranial or spinal meningioma which triggers epilepsy, radicular or medullar compression, mental retardation, cranial and peripheral nerve affections or other effects. The number and size of tumors increases with time. Seventy percent of meningiomas are small, located fronto-basally.\par
Silvio's aqueduct stenosis may also occur, along with secondary internal hydrocephaly.\par
There are also abortive forms of the disease, which require the investigation of heredo-colateral history. The Manchester Diagnosis Criteria for Type 2 NF: 1. Bilateral vestibular schwanoma, or first degree relative with Type 2 NF with unilateral vestibular schwanoma. 2. Two of the following: meningioma, schwanoma, glioma, neuromas, posterior subcapsular cataract. 3. One vestibular schwanoma and two of the following: meningioma, schwanoma, glioma, neuromas, posterior subcapsular cataract. 4. Two or more meningioma and one unilateral vestibular schwanoma or two of the following: meningioma, schwanoma, glioma, neuromas, posterior subcapsular cataract. Acoustic-vestibular bilateral schwanoma is the most representative for the Type 2 NF.\par
Existing at birth, the disease may sometimes become apparent only at puberty, when it starts evolving very quickly.\par
The clinical diagnosis is confirmed via neuroimaging: MRI, CT-scan.\par
The neurosurgical treatment aims the excision of surgically-reachable tumors. The typical medication includes antiepileptic drugs, and radiation therapy is also an option.\par
It is important to obtain genetic advice, although males suffering from Type 2 NF usually have low fertility. This case study will showcase a 26 year old female patient diagnosed with type 2 NF, while her twin sister is healthy and does not present lesions under neuroimaging examination. D.A., female, 26 years old, originating from twin birth, was diagnosed at birth with infant encephalopathy, and later diagnosed with slight mental retardation.\par
Her family history indicated that the father exhibited left ear deafness and several angiofibromatype elements at chin level, although he has rejected any neuroimaging investigations. In October 2014, after an acute vestibular syndrome, he had a MRI evaluation and he was diagnosed with an infiltrativ glioama of the middle brain. Her father's brother also exhibited many skin neuromas, not investigated through neuroimaging techniques.\par
Starting from puberty, the patient exhibited neurofibroma-type cutaneous lesions located on the upper back, whose number and size have increased in time.\par
In 2006, the patient exhibited increasingly severe gait trouble which became paraplegic spasms, neuro-clinical examinations suggesting potential medullar compression. Dorsal vertrebo-medular MRI revealed a tumorous formation in the T9 medullar region, which was surgically removed following a psamomatose meningioma:   In October 2012, a brain and spinal neuroimaging reassessment revealed the relapse of the cranio-spinal meningioma which encased the vertebral artery at the right parasagittal bulbous-spinal junction up to the C1-C2 level, the growth of the cerebellar right angle expansion process, the emergence of an intensely gadolinium-absorbing in the Meckel cavum, probably a left trigeminal neuroma, growth of the front-basal meningioma. The cerebellar meningioma remained the same, multiple small bilateral supratentorial meningioma, with the emergence of six new lesions.  Gamma Knife surgery was considered at that point, however the patient is currently treated solely on a symptomatic base only, and is periodically subjected to medical checks. She has no seizures, but there are important gait disturbances. 
\section[{II. Discussion}]{II. Discussion}\par
In conclusion, following the Manchester criteria the patient could be diagnosed with Type 2 NF, probably inherited from her father. The illness started at birth, as the patient was early diagnosed with infant encephalopathy). However, the illness manifested itself clinically during puberty, first being revealed as spinal meningioma, later the front-basal meningioma emerged and eventually the characteristic acoustic-vestibular nerve neuroma and the rest of the supratentorial meningioma showed up.\par
The difference between this particular case and other related ones is that the patient is one of two twins. While her twin sisters skull-spine neuroimaging examination confirmed a perfect health, the patient suffered from infant encephalopathy, mental retardation, and later exhibited symptoms corresponding to Type 2 NF, with multiple neurological symptoms determined by the intra-cranial and intra-spinal expansion processes. In this case, Type 2 NF, a dominant autosomal hereditary disease, has only affected one of the 2 twins (whether they are monozygotic or not is not clear).\begin{figure}[htbp]
\noindent\textbf{1}\includegraphics[]{image-2.png}
\caption{\label{fig_0}Figure 1 :}\end{figure}
 \begin{figure}[htbp]
\noindent\textbf{2}\includegraphics[]{image-3.png}
\caption{\label{fig_1}Figure 2 :}\end{figure}
 \begin{figure}[htbp]
\noindent\textbf{35}\includegraphics[]{image-4.png}
\caption{\label{fig_2}Figure 3 :Figure 5 :}\end{figure}
 \begin{figure}[htbp]
\noindent\textbf{26}\includegraphics[]{image-5.png}
\caption{\label{fig_3}Type 2 Figure 6 :}\end{figure}
 \begin{figure}[htbp]
\noindent\textbf{28}\includegraphics[]{image-6.png}
\caption{\label{fig_4}Type 2 Figure 8 :}\end{figure}
 \begin{figure}[htbp]
\noindent\textbf{}\includegraphics[]{image-7.png}
\caption{\label{figure7}}\end{figure}
 		 		\backmatter  			  				\begin{bibitemlist}{1}
\bibitem[Jean et al. ()]{b0}\label{b0} 	 		\textit{},  		 			Cambier Jean 		,  		 			Masson Maurice 		,  		 			Dehen Henri 		,  		 			Masson Catherine-Neurologie 		.  	 	 		\textit{Edition XII}  		2008. Elsevier Masson, S.A.S.  	 
\bibitem[Adams et al.]{b1}\label{b1} 	 		\textit{Ropper-Principles of Neurology},  		 			Raymond D Adams 		,  		 			Maurice Victor 		,  		 			H Allan 		.  		USA: The McGraw-Hill Companies. p. .  	 	 (Sixth Edition) 
\end{bibitemlist}
 			 		 	 
\end{document}