Case Report

JK-PRACTITIONER

PROTEUS SYNDROME

Nisar A Bhat MD, S A Kadla MD, P A Shah DM, M A Kamili MD, Ifat Hussan MD

ABSTRACT A 20 year old female, born of non-consanguineous marriage, presented with two days history of weakness of both lower limbs and retention of urine. Clinical examination of the patient revealed multiple developmental deformities in the form of macro-Syndactyly, small and large disfiguring lipomas and other soft tissue swellings, in addition to features of non-compressive myelopathy Roentgenography revealed Macrodystrophea lipomatosa progressiva of both hands and butterfly cervical vertebrae. Aspiration cytology of soft tissue swellings confirmed the presence of lipomas and epidermal cyst. It is the first case report from Kashmir and fourth case report from india with characteristic macrodactyly.
JK Practitioner 2004; 11(4):263-265 INTRODUCTION Proteus Syndrome is a complex disorder comprising of malformations and over growth of multiple tissues. The disorder is highly variable and appears to affect patients in a mosaic manner. The disorder was originally described in two patients by Cohen and Hayden (1979)1 and was designated Proteus Syndrome by Wiedemann et al (1983)2 to denote its variability of clinical expression. It is a complex hamartomatous disorder consisting of partial gigantism of the hands and /or feet, asymmetry of the limbs, plantar hyperplasia, hemiangiomas, lipomas, lymphangiomas, varicosities, verrucous epidermal nevi, macrocephally, cranial hyperostosis, long bone over growth3 and ocular manifestations like strabismus, nystagmus, high myopia and retinal pigmentary abnormalities 4 etc. Although much has been learned about proteus syndrome in recent years, knowledge is still evolving rapidly. We present a case of proteus syndrome with some features which have not been reported so far.e.g. Butterfly cervical vertebrae, absent mammary ripple and syndacytly. admitted with two days history of sudden weakness of both lower limbs and retention of urine. As a result of this weakness the patient was unable to stand or walk. There was no history of any recent febrile illness, upper respiratory catarrh or vaccination, prior to onset of these symptoms. The patient had large hands with fused fingers and swelling over the back since birth. As she grew up, her hands and fingers became progressively disproportionately enlarged, and the swelling over the back also increased in size. In addition to this, swellings also appeared on back on right side just below the scapular region and another in right hypochondrium. The patient was born as full term normal delivery at home. She was 5th in birth order with all family members apparently normal. There was no significant history in her antenatal, natal and post- natal periods. Examination of the back revealed a swelling covering whole of the right scapular and interscapular region with extension to lower part of neck giving it a webbed appearance (Fig I). The swelling was soft in consistency CASE REPORT with well defined margins. In addition to A twenty year old female born of this, another swelling of 7x 8 cm was non consanguineous marriage was present just below right scapular line (Fig
Key words: Macrodactyly, Macrodystrophea lipomatosa progressiva, Transverse myelitis.

Authors affiliation: Nisar A Bhat Department of Health (SDH Tral), J&K Govt. Srinagar S A Kadla, P A Shah, M A Kamili Department of Medicine Ifat Hussan Department of Dermatology Govt. Medical College, Srinagar,

Accepted for publication July, 2003 Address for Correspondence: Dr. Nisar Ahmad Bhat Tral Kashmir India-192123

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II). It was soft in consistency, slippery to touch with well defined margins. Examination of the breasts revealed normal right breast. Left breast was enlarged, and pendulous with welldeveloped areola but only rudimentary non-punctate nipple. Examination of hands revealed following features (Fig III, IV & V). A.) Right hand, hypertrophied with normal thumb. Macrodactly of index and middle finger. Syndactyly of ring and little fingers, both of which were hypertrophied. Whole of the right hand revealed ulnar deviation. The palmar skin was thick, rugose, with gyriform convolutions. The skin on dorsum revealed prominent superficial vessels. There was a swelling in the lower part of right arm just near elbow joint. The swelling was similar to other swellings and measured 4x8 cm. Whole of the right fore-arm was hypertrophied with prominent veins over the skin. No bruit was heard. Nails were normal. B) Left hand of the patient revealed normal thumb, index and little fingers (FigIV). No macrodactly. Syndactly of middle and ring fingers, both of which were of normal size. Ulnar deviation of hand. The palmar side revealed thick, rugosities with gyriform convolutions. There were prominent superficial vessels over the skin and on dorsum of hand. The fingers of the left hand were in the attitude of flexion (1100). There was inability to suppinate the left hand. There was flexion contraction at wrist. Left fore-arm too was hypertrophied but not as large as right fore-arm. Prominent veins were also visible on left fore-arm. Nails were normal. The upper arms, lower limbs and feet were normal with respect to morphology. The examination of chest and CVS was normal. The examination of abdomen revealed an extra abdominal soft non tender swelling of 10x12 cm in right lower quadrant with striae on its overlying skin (Fig III). There was no organomegaly. The examination of CNS revealed paraplegia of upper motor neuron type with palable urinary bladder with sensory level at T 8. Examination of fundi was normal. ANTHROPOMETRIC DATA of patient revealed (in inches)
- Height = 65 - Head circumference =21.4 - Girth of right middle finger = 12 - Arm span = 60 -Upper segment =31 - Lower segment =34 - Right fore-arm (length) =10 - Right shoulder to elbow distance =13 - Left fore-arm =11 - Left shoulder to elbow distance =16 - Right hand, wrist to tip of middle finger =13 - Palm span =8x14 - Left hand, wrist to tip of middle finger =12 - Palm span =5x7 - Weight =76 kg

Figure I. Webbed neck

Figure II. Multiple swellings on the back

Figure III. Pendulous large left breast with nonpunctate nipple and righthand

Figure IV. Left hand

INVESTIGATIONS REVEALED: 1. Normal urine analysis, hemogram, KFT, CSF and LFT. ECG was also normal. 2. The radiological investigation showed butterfly cervical vertebrae (Fig VI) 3. X-ray survey of chest (P/ A view), long bones, lumbosacral spine and CT myelography were also normal. 4. X-ray survey of hands revealed Macrodystrophea Lipomatosa progessiva of both hands. 5. FNAC of the swellings revealed them to be lipomas with exception of the swelling below right scapular area,

which revealed features of epidermal cyst. The patient was managed as a case of transverse myelitis. She was put on indwelling catheter and physiotherapy. With aforementioned clinical and laboratory parameters, a diagnosis of proteus syndrome with no compressive dorsal myelopathy (segment level D8) was made. Her weakness improved and there was no residual weakness. 264

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(either one), bilateral ovarian cystadenomas, parotid monomorphic adenoma. Category C includes : 1, Dysregulated adipose tissue (either one) - lipomas, regional absence of fat ;2. Vascular malformations (one or more)Capillary malformations, venous malformation, lymphatic malformation3. Fascial phenotype- dolichocephaly, long face, minor down slanting of palpebral fissures and/or minor ptosis, low nasal bridge, wide or anteverted nares, open mouth at rest. Our patient fulfilled the general criteria and had features from category B and C. Our patient had butterfly cervical vertebrae, absent mammary nipple (left side) and syndactyly. Although much has been learned about proteus syndrome in recent years (Cohen 19933, Biesecker etal 19987, knowledge is evolving rapidly. The recommendations for diagnostic criteria are considered tentative because future clinical and molecular studies may necessiate modification after scanning patients of proteus syndrome in future. BIBLIOGRAPHY
1. Cohen MM Jr, Hayden PW.1979.A newly recognized harmartomatons syndrome. In O' Donnell JJ, Hall BD, editors. Penetrance and variability in malformation syndromes. Birth Defects 15 (5B): 291-296. Wiedemann H-R, Burgio GR, Aldenhoff P, Kunze J, Kaufmann HJ, Schirg E. 1983. The proteus syndrome, partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumours, macrocephaly, skull anomalies and possible accelerated growth and visceral affections. Eur J. Pediatr 140: 5- 12. Cohen MM Jr. 1993. Proteus syndrome: Clinical evidence for somatic mosaicism and selective review. Am J Med Genet 47: 645-652. Inge De Becker, David J. Gajda, Enid Gilbert-Barness and M. Michael Cohen Jr. 2000. Occular manifestations in proteus syndrome. Am J Med Genet 92 (5): 350-2. Happle R. 1987. Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin. J Am Acad Dermatol 16: 899-906. Leslie G. Biesecker, Rudoff Happle, John B. Mulliken etal 1999 Proteus syndrome: Diagnostic Criteria, Differential Diagnosis, and patient Evaluation. American Journal of Medical Genetics 84: 389-395 Biesecker LG, Peters KF, Darling Tx et al 1998. Clinical differentiation between proteus syndrome and hemihyperplasia: description of a distinct form of hemihyperplasia. Am J Med Genet. 79-311-318.

Figure V. Both hand

DISCUSSION Proteus syndrome is a congenital disorder with varied clinical manifestations -Happle(1987)5 hypothesized that the syndrome resulted from a somatic alteration of a gene leading to mosaic effects that would be lethal if the mutation were carried in a non mosaic fashion. This potentially explains the variability among and within patients, but has led to diagnostic confusion. The first National conference on proteus syndrome for parents was held at the national Institute of Health in Bethesda, Maryland from March18-20, 1998 and recommendations were given on diagnostic criteria, differential diagnosis and guidelines for evaluating patients6. The general characteristics of mosaic distribution of lesions, progressive course and sporadic occurrence are considered mandatory, regardless of specific manifestations in a given patient. Connective tissue nevi are common and are facultative but not obligatory i.e. they may or may not be present. When present, a connective tissue nevus is almost pathognomonic for proteus syndrome and kept in specific criteria (Category A). Category B includes1, Epidermal nevus;2,Disproportionate overgrowth in one or more limbs (arms/legs/hands/feet/digits), skull (hyperostosis), external auditory meatus (hyperostosis), vertebrae (Megaspondylodysplasia), visceral enlargement (spleen, thymus) and 3, Specific tumours before end of second decade

2.

3. 4. 5. 6.

7.

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AN UNUSUAL FOREIGN BODY IN THE URINARY BLADDER

Syed Sajjad Nazir M.S; Baldev Singh Wazir M.S; FAIS; FICS, Shagufta Qazi MD.

ABSTRACT Many cases of self introduction of foreign bodies into the bladder have been reported. Different items have been found (light bulbs, fruit kernels, screws, pebbles, wires etc.) and most were associated with mental illness, senility, psychiatric abnormalities or for sexual purposes. We report a case of transvesical foreign body following penetration of the rectum secondary to a fall on log of wood.
JK Practitioner 2004; 11(4):268-269 INTRODUCTION A 27 year old male presented with increased frequency of urine , and burning at the end of micturation. A plain X-ray of the abdomen including pelvis was normal . Ultrasonography revealed a rod shaped vesicle calculus. The patient had suffered a rectal injury three months earlier. He had a fall from 8 feet height on a log of wood and sustained an injury in the perineal region on the right side. An examination was performed which revealed a clean incised wound, bleeding actively measuring 5cms and extending 1cms away from anus laterally on right side which was stitched. Proctoscopy revealed a hyperaemic area on the anterior wall of the rectum. Patient developed haematuria for three days which was treated conservatively by antibiotics (ciprofloxacillin). Following the discovery of the calculi, the patient underwent cystoscopy which revealed a rod shaped calculi measuring 5cms x 0.5 cms , lying freely in the bladder . Mechanical transurethral cystolitholapexy was performed

Authors affiliation: Syed Sajjad Nazir , Baldev Singh Wazir Department of Urology Prof. Shagufta Qazi Department of Anaesthesiology Sher-I-Kashmir Institute of Medical Sciences Soura Srinagar, Kashmir ( india). Pin - 190011, Post Bag No: 27 Received July, 2003 Address for Correspondence: Dr. Syed Sajjad Nazir H.no: 171 Rawalpora Housing Colony Sanat nagar Srinagar Kashmir (India). Pin - 190005 Ph.no : 2434272 \ 2437399

Figure 1. Ultrasonography showing rod shaped vesicle calculi

Figure 2. Rod shaped calculi found to comprise of wooden pieces

for its removal . This rod shaped calculi was found to comprise of wooden pieces. Recovery was uneventful. Reports of transvesical migration or self inserted foreign bodies like surgical

Key words: Transvesical, Foreign body, Bladder.

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sutures1, metallic hip prosthesis2 or plastic tube, electric wires, pebbles, urethral dilatation for the purposes of masturbation or curiosity are common 3 . However , reports on the appearance of transvesical foreign bodies following penetration of the rectum are rare4. In this case only urine analysis revealed microscopic haematuria at the time of the accident and symptoms took three months to develop. It appears that a sharp piece of wood entered the right perineal region into the rectum, pierced the anterior rectal wall and then entered into the urinary bladder. BIBLIOGRAPHY
1. Eckford SD , Persad RA, Brewster SF et al. Intravesical foreign bodies : Five year review. B. J. U. 1992; 69: 41-45. 2. Sharma VP, Nebeebux Y and Patric J Unusual foreign body in the bladder. Br. J. Urol. 1987; 59: 92. 3. Osea JM, Breseta E , Server G et al. Unusual foreign bodies in the urethra and bladder. Br. J. Urol. 1991; 68: 510- 512. 4. Kanne N, Iwasa A, Seneh H, and Takemoto M. An unusual foreign body in the urinary bladder. Br. J. Urol. 1994; 73 : 587 - 588.

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FILLING OF LARGE HUMERAL DEFECT IN A TWO YEAR OLD CHILD BY ILIZAROV TECHNIQUE
Altaf Ahmad Kawoosa MS, Manzoor Ahmad Halwai MS, G.R. Mir FRCS (Edin) FRCS (Orth) Mch Orth. (liver Pool)

ABSTRACT Ilizarov technique of bone transport is now an established method of treatment of large bone defects, however, filling of such defects in children pose multiple problems to the treating surgeons. We present a case of large humeral defect due to osteomyelites in a two-year-old child treated by bone transport using a modified external fixator. A 7.5 cm defect in humerus was filled with a healing index of the regenerate of 1.02 months/cm. The total duration of fixation was 8 months. Mild pin tract infection during the fixation period was the only problem encountered.
JKPractitioner 2004; 11(4):266-267 INTRODUCTION: Filling of large bone defects is one of the most difficult problems in reconstructive surgery. Large defects in bone may result from trauma, infection or as a result of resection of big segments of bone for various pathologies. Small defects have traditionally been treated by bone grafting, however, it takes long consolidation time, may have rejection, sequestration and require prolonged immobilization for filling large bone defects. Isolated free fibular grafts again need long periods of immobilization and have a high rate of sequestration. Though the vascularised fibular grafts have the advantages of better resistance to infection and better incorporation, the technique needs microsurgery and is technically demanding. Ilizarovs technique of bone transport has produced remarkable results in filling of such large bone defects. The technique involves lengthening distraction of one of the bone fragments to fill the defect. Management of large defects of upper limb in very young children is very diffcult in terms of fixation of small bone fragmets which have been rendered week by disuse porosis. We present a case of large humeral defect in a two-year old child filled by bone transport over a modified external fixator to avoid the bulky rings of the Ilizarov frame. CASE REPORT: A two year old male child suffered an attack of a cute steomyelites of his right humerus when he was one Vol. 11, No. 4, October-December 2004

Authors affiliations: Altaf Ahmad Kawoosa, Manzoor Ahmad Halwai, Prof. G.R. Mir Hospital for Bone and Joint Surgery Srinagar, Kashmir Accepted for publication April 2004 Correspondence to: Dr. Altaf Ahmad Kawoosa Bazaz Manzil Near Old Post Office Nowshera Srinagar, J&K 190011 Phone: 91 194 2402327, 2402163 Fax: 91 194 2433730 Email:draltaf@yahoo.com

year old. Repeated drainages and sequestrectomy left a big diaphyseal gap in the humerus. Patient was brought to our OPD for treatment of the deformity. Examination revealed a frank non-union of humerus with stiff elbow and shoulder as a result of prolonged Plaster of Paris immobilization. X-Rays showed a large diaphyseal defect with porotic bone fragments with tapering ends. Ilizarov bone transport was planned using a uniplanner fixator. The external fixator was pre-constructed to decrease operation time and consisted of three curved connection plates connected by a threaded rod. Surgery was under taken under general anesthesia. The defect site was opened and the intermediary fibrous tissues removed. The bone ends were freshened and the medulary cavities opened on either side. A small Krishner wire was passed in a retrograde manner to maintain the alignment of the bony fragments. The fixator was next mounted on the humerus using small diameter half pins, two in each of the connection plate. To add to the stability of the fixator, fixation was performed across the elbow. Through a small incision corticotomy was performed in the supracondylar region. After a latency of five days bone transport was started by turning the nuts on the threaded rod at a rate of 0.25 mm four times a day. Once the distraction was completed the fixation across elbow was removed to allow range of motion exercises of the elbow. At the time of docking the bone ends were freshened again and small cancellous bone graft 266

Key words: Osteomyelites, Non-union, Bone transport, Ilizarov technique