Clinical Centre of Vojvodina

Department of Neurology Hajduk Veljkova 1-9 21000 Novi Sad Sebia tel.:(+381-21) 520-892, fax: 526-520 Name and surname: Vuković Stojan, 21 years old Date: March 12th, 2015

SPECIALIST'S BRIEF

Diagnosis and ICD-10 code: HSMN (Mb Charcot Marie Tooth type I) Anamnesis: Hypotrophy of lower leg and rough atrophy of foot muscles, with a certain loss of GMS in arms, more prominent in legs. Can get up from crouch, walk on toes, but hasn't been able to walk on heels for a long period of time. In the time span of two years performed two EMG-s – both indicate a severe sensory-motor polyneuropathy which corresponds to HSMN, arising suspicion of a CMT disease. Went through phenetic examination and obtained an affirmative finding. Neurological and somatic status: cranial nerves NAD, GE GMS preserved, MTR reduced, DE GMS in proximal segment practically preserved, dorsiflexion of thumb and foot impossible, walk on heels impossible, walk on toes debilitated. Sensibility debilitated by „sock“ sensory impairment. Tinnel sign positive for Ge and DE. Contact global centres for genetic examination of diseases. Undergo control in accordance with clinical features. Th: roborantia (Coenzyme Q10, alpha lipoic acid, Milgamma 100 and the like) maintenance of musculature and GMS via daily exercises and occasional physical rehabilitation treatments. Neurologist Prof. Dr Milan Cvijanović

University of Belgrade

Faculty of Biology

Centre for Human Molecular Genetics

Phone no./fax no. (011)2 63 91 00

Protocol no. CMT377/11 Date: April 24th, 2014

Duplicate of molecular-genetic analysis findings

Name and surname: Stojan VUKOVIĆ (CMT377), proband

Purpose of testing: Suspected clinical diagnosis of hereditary motor and sensory neuropathy, type 1

Practising physician: Prof. dr Nikola Dimitrijević, University Children’s Hospital, Neurology Outpatient Clinic 221, 10 Tiršova st.,

Belgrade

Sample: Peripheral blood

Date of receipt: September 12th, 2011

Analyses: DNA isolation (Qiagen Mini Kit, QIAGEN, Germany).

Indirect determination of deletion of PMP22 gene via analysis of CMT1A-REP elements that surround the

PMP22 gene through the use of PCR and restriction digesting of PCR products with EcoRI enzyme (Stronach et

al., J Peripher Nerv Syst. 1999, 4:117-22).

Result: Stojan Vuković has duplication in the region 17p11.2-12 mapped by the PMP22 gene.

Clarification: Pursuant to the Bird DT data (GeneReviews, 2007, http://www.genetests.org/), 70-80% of patients with clinical

diagnosis of CMT1 belong to the CMT1A type, associated to the duplication of the PMP22 gene; CMT1B type (5-

10% of all CMT1 patients) is associated to point mutations in the MPZ gene; CMT1C type (1-2% of all CMT1

patients) is caused by mutations in the LITAF (SIMPLE) gene; CMT1D type (less than 2% of all CMT1 patients) is

associated to mutations in the EGR2 gene; CMT1E type (less than 5% of all CMT1 patients) is caused by point

mutations in the PMP22 gene; CMT2E/1F type (less than 5% of all CMT1 patients) is associated to mutations in

the NEFL gene; more than 90% of patients with clinical features of hereditary neuropathy with a tendency

toward paralyses upon pressure (tomaculous neuropathy or HNPP) have deletion of the PMP22 gene.

Genetic advice: Prenatal diagnostics for CMT1A is recommended for Stojan Vuković in case of family expansion planning.

Analyses performed by: Stamped by:

Prof. dr Dušanka Savić Pavićević Dean of the Faculty of Biology

Prof. dr Jelena Knežević Vukčević

This Duplicate of findings shall be issued upon request of prof. N. Dimitrijević, to whom one copy shall be provided, while the other copy

shall be kept in the Archive of the Faculty of Biology.

Page 1 of 1

INSTITUTE FOR PULMONARY DISEASES OF VOJVODINA Sr. Kamenica 21204 Sremska Kamenica Put doktora Goldmana 4 Chest Surgery Clinics Thoracic Trauma Unit Phone: 480-52-57 Fax: 021/527-960

DISCHARGE LETTER

Patient: Vuković (Dragan) Stojan, ID: (M) Date of birth: September 26th, 1994 Unique PIN: 2609994790015 HEIS: 161491 Protocol no.: 4359/2014 Blood type: Address: SRB, 31310 Čajetina, Zlatibor, Obudovica 78 HIN: 18400040756 Insurance: (1010) Worker Phone no.: 031/841-945 Fund: ZLATIBOR COUNTY BRANCH OFFICE – UŽICE – ČAJETINA Date of admission: Aug 3rd, 2014 Date of discharge: Aug 9th, 2014 Time spent in institution: 6 days Times admitted: 1 Reason for admission

(Aug 3rd, 2014 Ass. mr sc.med Ivan Kuhajda) Admission diagnosis

Q677 Pectus carinatum Discharge diagnosis – codes

Q67.7 Pectus carinatum Surgery

(Aug 4th, 2014 Ass. dr Milorad Bijelović): Plastica parietis thoracis sec. Ravitch. Drainage thoracis laters dextri. Drainage retrosternalis. Drainage subcutis.

Epicrisis The patient was hospitalized for surgical treatment of innate deformity of the anterior thoracic wall by pectus carinatum type. Upon the appropriate preoperative preparation, the surgery of the patient was performed under general anesthesia on Aug 4th, 2014 by performance of anterior thoracic wall plasty by Ravitch. The postoperative recovery flow is normal, drains have been removed. Control radiogram of the thorax is in accordance with the performed intervention. The patient is discharged with recommendation of control appointment with thoracic surgeon in 7 days, on Wednesdays (appointment is to be scheduled via phone no.021/4805-289) with corresponding referral letter and new PA x-ray of the thorax.

On departure: Improved condition Manner of departure: Upon advice Opinion and suggestions for further treatment: analgesics if necessary Control: Control appointment with thoracic surgeon in 7 days, on Wednesdays. The patient has been informed pursuant to Article 11 of the Law on the Patients' Rights Departmental physician Head of Department Hospital Administrator Dr Mišel Milošević Ass. dr Milorad Bijelović Doc. dr Dejan Đurić Director of Institute: Prof. dr Branislav Perin Sremska Kamenica: Aug 9th, 2014 10:26

H.C. UŽICE EMNG CABINET

Surname and name: Vukovic Stojan Date of birth: September 26th, 1994

No.: 235 Gender: M

Date: July 7th, 2011

MEDICAL FINDINGS: Dr. Karganovic, Zeljko

MNCV Motor Nerve Conduction

Left: Posterior Tibial Onset Duration Amplitude Area Distance Velocity

1. Ankle 9,5ms 6,0ms 373µV 651µVms 12,0cm

2. Pop Fossa 20,1ms 1,8ms 46,1µV 34µVms 47,0cm 44,3m/s

MNCV Motor Nerve Conduction

Left: Peroneus Onset Duration Amplitude Area Distance Velocity

1. Ankle 2,1ms 11,1ms 307µV 1,5µVs 5,0cm

2. Fib Head 13,6ms 3,5ms 87,1µV 132µVms 39,0cm 33,9m/s

MNCV Motor Nerve Conduction

Right: Peroneus Onset Duration Amplitude Area Distance Velocity

1. Ankle 2,5ms 17,0ms 205µV 1,5µVs 6,0cm

2. Fib Head 12,5ms 2,5ms 35,9µV 40µVms 38,0cm 38,0m/s

SNCV Sensory Nerve Conduction

Right: Sural Onset Duration Amplitude Area Distance Velocity

1. Leg 6,6ms 3,5ms 11,4µV 18µVms 14,0cm 21,2m/s

MNCV Motor Nerve Conduction

Right: medianus Onset Duration Amplitude Area Distance Velocity

1. Wrist 10,7ms 10,8ms 692µV 3,8µVs 5,0cm

2. Under Elbow 28,2ms 10,4ms 463µV 2,2µVs 25,0cm 14,3m/s

Interpretation Fibrillations Fasciculations Amplitude Duration Polyphasia Interf. Sample

Right Tibialis Anterior

Neurogenic lesion

0/10 0 ++ + + -

The entire EMNG findings indicate the existence of a relatively symmetrical, sensory-motor, axonal-demyelinating, probably primarily demyelinating polyneuropathy, which in correlation with clinical features and heredity data may correspond to hereditary polyneuropathy CMT (MBP for n.medianus are below 30m/sec).

Right foot