Case Report
Melnick- Needles Osteodysplasty Presenting With Quadriparesis
SK Bandyopadhyay*, J Ghosal**, Nandini Chakrabarti***, Anita Dutta+

Abstract
Melnick-Needles syndrome or osteodysplasty, a monogenic heritable bone dysplasia, is characterized by atypical facies and characteristic radiological findings. Less than 70 well-documented cases have been reportedin literature; most of them were sporadic. We report the first case from Eastern India in an adolescent male,who had cranio-vertebral junction anomalies and presented with spastic quadriparesis at the age of13 years. ©
INTRODUCTION
A case of rare Melnick-Needles osteodysplastyproducing cervico-medullary compression due tocomplex craniovertebral (CV) junction anomalies isreported.
CASE REPORT
A 13 years male presented with progressive weaknessof all four limbs for two weeks. The weakness first startedin the left lower limb distally and progressed rapidlyover next one to two days to involve the other limbs.There was no history of loss of consciousness,convulsion, headache, sensory abnormalities, abnormalmovements, sphincter dysfunction, involvement of facialmuscles, dysphagia, respiratory distress, oscillopsia, orsimilar history in the past. The only child of non-consanguineous parents, he was born with several bonydeformities, had delayed developmental and motormilestones and was able to walk only at the age of fiveyears. His vision and hearing were normally developedbut he could not utter meaningful words. Family historywas non-contributory.
On examination, facial features were remarkable withbroadened forehead, exophthalmos, widely set eyes withanti-mongoloid slant, depressed temples, fleshy nose,large ears, prominent upper jaw, micrognathia, anddental malalignment (Fig. 1). Neck: height ratio was 1:16.8. Skeletal examination revealed scoliosis to the right,pectus excavatum, flexion deformity of the elbow,metacarpo-phalangeal and interphalangeal joints, long slender fingers, genu valgus, hallux valgus, and flexioncontracture of the toes. A clinical diagnosis of Melnick-Needles syndrome was made. Neurological examinationrevealed diminished power, hypertonia, bilateralextensor plantar responses, and exaggerated deepreflexes. Cranial nerves were not affected. Examinationof other systems was unrevealing.
*Assistant Professor; **Post Graduate Student; ***RMO –cum-
Clinical Tutor; +Professor; Department of Medicine, Nil Ratan
Sircar Medical College and Hospital, 138, A J C Bose Road,
Kolkata-700 014.
Received : 14.11.2005; Revised : 22.12.2005; Accepted : 6.2.2006
Routine hemogram, renal and hepatic biochemicalprofile was normal. Skeletal survey showed generalizedosteosclerosis, bony sclerosis of base of the skullstructures, abnormal dental alignment, platybasia,fusion of upper cervical vertebrae (C2- C4), sclerosis andirregularity of clavicles and ribs, scoliosis of thoracicvertebrae (T4-T8), cortical irregularity of tubular bones with metaphyseal flaring and diaphyseal bowing, andbroadening of iliac crest and vertebral bones. Abdominalultrasound, electrocardiogram, echocardiogram, andradiography of lung fields were unremarkable. Onmultiplanar magnetic resonance imaging (MRI), atlanto-occipital assimilation was seen with almost fusion ofposterior arch of atlas with occipital bone. There wasplatybasia, partial arthrosis between C2-C3 vertebrae,mild anterior atlanto-axial subluxation along withposterior angulation of the odontoid tip. The odontoidtip was well below McGregor’s line. Narrowing of the CV junction was seen producing indentations on thelower brain stem and at cervico-medullary junction withhyperintense intramedullary signal changes suggestiveof cord edema / myelomalacia (Fig. 2). No significantdisc bulge was seen. A final diagnosis of Melnick-Needlesosteodysplasty with multiple C V junction anomalieswas made. Screening of the family members wasnegative.
DISCUSSION
Melnick-Needles syndrome or osteodysplasty is ahighly characteristic syndrome of the skeletal system,the affected individual having typical facialappearance.1 Main clinical findings are relatively largecranium with high prominent forehead and generalizeddelay in closure of fontanelles, small facial part,exophthalmos, hypertelorism, fleshy nose, full cheeks,relatively large ears, micrognathia, malalignment of teethand malocclusion.2 Variable deformities of the arms, legs,fingers and toes are usually present along withcharacteristic radiological changes (especially corticalirregularities and narrowing of diaphyses) involving long bones and axial skeleton.3 Apart from abnormalfacies, patients usually attract attention because of anabnormal gait and bowed limbs.2 Affected individualsattain normal adult height, and mental development isnot affected.2,3
This monogenic heritable diseases is transmittedeither as X-linked dominant or autosomal dominant,associated with lethality in males and normal lifeexpectancy in females, and till date less than 70 caseshave been reported in literature.4 Affected children mayhave initial failure to thrive, and increased susceptibilityto infection of upper respiratory tract and middle ear.3Pelvic deformity may cause difficult child bearing inadult, and narrow thorax may give rise to impairment ofrespiration. Premature arthritis can develop.2 Prenatalrecognition of skeletal changes is possible. Somesuperficial similarities to conditions likepyknodysostosis, craniometaphyseal dysplasia orEngelmann Caurati syndrome can be easily ruled out byappropriate radiological studies.1 Partially expressedforms may be recognized only by chance. Several reportsof ‘serpentine fibula-polycystic kidney syndrome’ withmarked similarities to Melnick-Needles syndromeappear independently in literature.5
Though a definite genetic diagnosis was not possible,the typical facial features (particularly the dentalmalalignment and antimongoloid slant of eyes) andwidespread skeletal deformities in this case were closelysimilar to those described for Melnick-Needles syndromein literature. The patient presented with quadriparesisat 13 years of age as a result of cervico-medullary cordcompression due to associated cranio-vertebral junctionanomalies. There is no report of such a presentation inthe literature. In absence of any family history, the patientwas considered to have first phenotypic expression of anew mutation in his family. This may also be the reasonfor the course being not as lethal as reported in literaturefor the affected males. At present, patient is awaiting aspinal fixation procedure through the anterior approachconsidering the complexity and extent of his spinaldeformities.
REFERENCES

1.Greco F, Mauceri L, Finocchiaro M, et al. Melnick-Needlessyndrome. Report of a case. Pediatr Med Chir 1998;20:149-52.

2.van der Lely H, Robben SG, Meradji M, et al. Melnick-Needlessyndrome (osteodysplasty) in an older male—report of acase and a review of the literature. Br J Radiol 1991;64:852-4.

3.Albano LM, Kim CA, Lee VK, et al. Clinical and radiologicalaspects in Melnick-Needles syndrome. Rev Hosp Clin Fac MedSao Paulo 1999;54:69-72.

4.Donnenfeld AE, Conard KA, Roberts NS, et al. Melnick-Needles syndrome in males: a lethal multiple congenitalanomalies syndrome. Am J Med Genet 1987;27:159-73

.5.Majewski F Enders H, Ranke MB, et al. ‘Serpentine fibula-polycystic kidney syndrome’ and Melnick-Needles syndromeare different disorders. Eur J Pediatr 1993;152:916-21.