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: Vukovi 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 Cvijanovi

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:

Purpose of testing:
Practising physician:
Sample:
Date of receipt:
Analyses:

Result:
Clarification:

Genetic advice:

Stojan VUKOVI (CMT377), proband

Suspected clinical diagnosis of hereditary motor and sensory neuropathy, type 1
Prof. dr Nikola Dimitrijevi, University Childrens Hospital, Neurology Outpatient Clinic 221, 10 Tirova st.,
Belgrade
Peripheral blood
September 12th, 2011
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).
Stojan Vukovi has duplication in the region 17p11.2-12 mapped by the PMP22 gene.
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 (510% 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.
Prenatal diagnostics for CMT1A is recommended for Stojan Vukovi in case of family expansion planning.

Analyses performed by:

Prof. dr Duanka Savi Pavievi

Stamped by:
Dean of the Faculty of Biology
Prof. dr Jelena Kneevi Vukevi

This Duplicate of findings shall be issued upon request of prof. N. Dimitrijevi, 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: Vukovi (Dragan) Stojan, ID: (M) Date of birth: September 26th, 1994
Unique PIN: 2609994790015 HEIS: 161491 Protocol no.: 4359/2014
Blood type:
Address: SRB, 31310 ajetina, Zlatibor, Obudovica 78
HIN: 18400040756
Insurance: (1010) Worker
Phone no.: 031/841-945
Fund: ZLATIBOR COUNTY BRANCH OFFICE UICE AJETINA
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 Bijelovi):
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 Miel Miloevi

Ass. dr Milorad Bijelovi

Doc. dr Dejan uri

Director of Institute: Prof. dr Branislav Perin

Sremska Kamenica: Aug 9th, 2014 10:26

H.C. UICE
EMNG CABINET
Date of birth: September 26th, 1994
Gender: M
Date: July 7th, 2011

Surname and name: Vukovic Stojan

No.: 235

MEDICAL FINDINGS:

Dr. Karganovic, Zeljko

MNCV Motor Nerve Conduction

Left: Posterior Tibial

Onset

Duration Amplitude

1. Ankle

9,5ms

6,0ms

2. Pop Fossa

20,1ms

1,8ms

Area

Distance

Velocity

373V

651Vms

12,0cm

46,1V

34Vms

47,0cm

44,3m/s

Area

Distance

Velocity

MNCV Motor Nerve Conduction

Left: Peroneus

Onset

Duration Amplitude

1. Ankle

2,1ms

11,1ms

307V

1,5Vs

5,0cm

2. Fib Head

13,6ms

3,5ms

87,1V

132Vms

39,0cm

33,9m/s

MNCV Motor Nerve Conduction

Right: Peroneus

Onset

Duration Amplitude

1. Ankle

2,5ms

17,0ms

2. Fib Head

12,5ms

2,5ms

Area

Distance

Velocity

205V

1,5Vs

6,0cm

35,9V

40Vms

38,0cm

38,0m/s

Area

Distance

Velocity

18Vms

14,0cm

21,2m/s

SNCV Sensory Nerve Conduction

Right: Sural

Onset

1. Leg

6,6ms

Duration Amplitude
3,5ms

11,4V

MNCV Motor Nerve Conduction

Right: medianus

Onset

Duration Amplitude

1. Wrist

10,7ms

10,8ms

2. Under Elbow

28,2ms

10,4ms

Area

Distance

692V

3,8Vs

5,0cm

463V

2,2Vs

25,0cm

Velocity

14,3m/s

Interpretation

Fibrillations

Fasciculations

Amplitude

Duration

Polyphasia

Interf.
Sample
-

Right
Neurogenic
0/10
0
++
+
+
Tibialis
lesion
Anterior
The entire EMNG findings indicate the existence of a relatively symmetrical, sensory-motor, axonaldemyelinating, 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