Menke’s Kinky Hair Syndrome - A Spectrum
of Clinico-Radiological findings
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Fig. 1 e (a) The child with typical cherubic facies, cupid ...
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Fig. 3 e T2WI (a) MRI images showing diffuse symmetric cere...
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hypointensities on FLAIR image, widening of CSF spaces and
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Menke’s Kinky Hair Syndrome - A Spectrum of Clinico-Radiological findings

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Menkes kinky hair syndrome is a fatal rare inherited neurodegenerative disease due to deranged copper metabolism. The manifestations begin after 2e3 months of life with developmental delay, intractable convulsions, typical facies and pili torti. Specific imaging findings which strongly point towards the diagnosis include symmetrical bony spurs around the knee joints, bladder diverticulas & brain atrophy with corkscrew tortuosity of intra & extracranial vessels. Low serum copper and ceruloplasmin are confirmatory for the disease.






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Menke’s Kinky Hair Syndrome - A Spectrum of Clinico-Radiological findings

  1. 1. Menke’s Kinky Hair Syndrome - A Spectrum of Clinico-Radiological findings
  2. 2. a p o l l o m e d i c i n e 1 0 ( 2 0 1 3 ) 3 0 2 e3 0 5 Available online at www.sciencedirect.com journal homepage: www.elsevier.com/locate/apme Case Report Menke’s kinky hair syndrome e A spectrum of clinico-radiological findings Alka Agrawal a, P.S. Tripathi b, Abhishree Geda c,*, Neha Nischal c a Associate Professor, Department of Radiodiagnosis, MGMMC & MY Hospital, Indore, M.P. 452001, India Assisstant Professor, Department of Radiodiagnosis, MGMMC & MY Hospital, Indore, M.P. 452001, India c Resident, Department of Radiodiagnosis, MGMMC & MY Hospital, Indore, M.P. 452001, India b article info abstract Article history: Menkes kinky hair syndrome is a fatal rare inherited neurodegenerative disease due to Received 23 October 2012 deranged copper metabolism. The manifestations begin after 2e3 months of life with Accepted 18 February 2013 developmental delay, intractable convulsions, typical facies and pili torti. Specific imaging Available online 26 February 2013 findings which strongly point towards the diagnosis include symmetrical bony spurs around the knee joints, bladder diverticulas & brain atrophy with corkscrew tortuosity of Keywords: intra & extracranial vessels. Low serum copper and ceruloplasmin are confirmatory for the Menkes disease disease. Here we present an interesting case with all classical findings of Menkes disease. Copper metabolism Copyright ª 2013, Indraprastha Medical Corporation Ltd. All rights reserved. Pili torti Tortuous intracranial vessels Cerebral atrophy 1. Case report A 7-month-old male infant presented with progressively increasing partial seizures with secondary generalisation since one month. The history suggested a regression of previously achieved milestones such as smiling, recognition of faces, cooing & playing with objects. The child had never achieved head holding. The child was born to non-consanguineous parents and had an institutional normal vaginal delivery at term with history of delayed cry. There was a positive family history of successive births of two male children with similar appearances & complaints to the mother’s sister. Both these children survived for 3e4 months of age & neither of them was investigated. On examination, patient had lack of visual contact and head holding with generalized hypotonia and lethargy. There was microcephaly with parietal bossing. There were characteristic hypopigmented, short, sparse, brittle, kinky, steely hairs (Fig. 1). Skin was typically hypopigmented and doughy with presence of cutis laxa. The most significant abnormality found on the laboratory workup was decreased copper and serum ceruloplasmin levels measuring 9.4 mg/dl (N: 20e70 mg/dl) and 16.2 mg/dl (N: 20e60 mg/dl) respectively. The standard blood analyses revealed anaemia with Hb levels 9.3 g/dl (N: 11e14 g/dl) & hypocalcemia with S. Ca 7.84 mg/dl (N: 8.4e10.4 mg/dl). Characteristic radiological abnormalities were found in the infant. Skeletal X-rays revealed mild diffuse osteoporosis, widened anterior end of ribs, metaphyseal flaring with * Corresponding author. E-mail addresses: abhi308.neha@gmail.com, neha.nischal@gmail.com (A. Geda). 0976-0016/$ e see front matter Copyright ª 2013, Indraprastha Medical Corporation Ltd. All rights reserved. http://dx.doi.org/10.1016/j.apme.2013.02.005
  3. 3. a p o l l o m e d i c i n e 1 0 ( 2 0 1 3 ) 3 0 2 e3 0 5 303 Fig. 1 e (a) The child with typical cherubic facies, cupid bow upper lip and hypopigmented skin. Sparse, coarse, lustreless, kinky and steely hairs. (b) Light microscopy of hair reveals fractures in shaft & pili torti. symmetrical bony spurs in distal femoral & proximal tibial bones & wormian bones in the skull (Fig. 2). On ultrasound, a small diverticulum was seen along the right lateral wall of urinary bladder. On MRI, there was predominantly involvement of subcortical white matter in the bilateral temporo-parietal & frontal regions showing symmetric T1 hypointense & T2 hyperintense areas with mild prominence of CSF spaces suggesting cerebral and cerebellar atrophy. Few patchy areas of restricted diffusion were also seen in these and in the ganglio-capsular regions. Striking tortuosities of the intracranial as well as extracranial arteries were seen on MR Fig. 2 e (a) X-ray knee joint showing bilateral distal femoral and proximal tibial spurs with metaphyseal widening. (b) 3DCT Reconstruction demonstrating wormian bones along the lambdoid sutures.
  4. 4. 304 a p o l l o m e d i c i n e 1 0 ( 2 0 1 3 ) 3 0 2 e3 0 5 Fig. 3 e T2WI (a) MRI images showing diffuse symmetric cerebral atrophy predominantly involving bilateral temporoparietal regions. MR angiography (b) showing the tortuosity of intracranial as well as extracranial arteries. angiography. No subdural hygromas/haematomas were seen (Fig. 3). Based on the above clinico-radiological & laboratory findings, the infant was diagnosed with Menke’s kinky hair syndrome, also known as trichopoliodystrophy. Currently he is on anticonvulsants but is showing no remarkable improvement. are hypopigmented, lustreless and break off easily. Microscopic examination (Fig. 2) reveals most often pili torti2 (hair twisted along its long axis), monilethrix (varying diameter of hair shafts) and trichorrhexis nodosa (fractures of the hair shaft at regular intervals). 2.1. Etio-pathogenesis3e5 Mutation at gene locus Xq13.3 (ATP 7A gene)4 Defect in copper transporting protein (esp cerulopasmin) Deficiency of key copper dependent enzymes lysyl oxidase (collagen) cytochrome c oxidase dopamine -hydroxylase (cellular respiration) (neurotransmitter) Tortuous intracranial arteries Hypothermia5 & decreased blood supply tyrosinase (pigmentation) psychomotor retardation Hypopigmentation superoxide dismutase (antioxidant) Recurrent infections Convulsions 2. Discussion Menke’s kinky hair disease or trichopoliodystrophy is a fatal rare multisystem disorder with an incidence of about 1 in 1,00,000e2,50,000 births.1 It has X-linked inheritance resulting in defective copper metabolism. The usual presentation is after 2e3 months with psychomotor retardation, intractable seizures, hypotonia. There is microcephaly, pudgy cheeks, cupid bow upper lip and cutis laxa. However, the most striking feature of this rare disorder is the presence of sparse kinky steely hair. The hairs typically 2.2. Imaging findings The common radiological features are progressive osteoporosis, presence of wormian bones, flaring of anterior ends of ribs & metaphyseal flaring around the knee joint with symmetrical spurs, scalloping of posterior surface of vertebral bodies. Multiple large diverticulas of the urinary bladder may be observed which predispose to recurrent UTI. The MR findings1 suggestive of this disease are unique. There are T1 hypointensities and T2 hyperintensities in the cortical and subcortical white matter with corresponding
  5. 5. a p o l l o m e d i c i n e 1 0 ( 2 0 1 3 ) 3 0 2 e3 0 5 hypointensities on FLAIR image, widening of CSF spaces and prominence of cerebellar folia suggestive of severe neuronal loss. Vascular compromise leads to demyelination of the white matter tracts. There may be areas of restricted diffusion secondary to diffuse white matter ischaemia. Bilateral large subdural hygromas suggests hemorrhages of different ages. MR angiography reveals elongated and tortuous intra as well as extracranial vessels (corkscrew pattern) which are characteristic of the disease. MR spectroscopy shows elevated lactate and reduced N-acetylaspartate (NAA)ecreatine (Cr) ratio. The normalisation of MRS features suggests favourable response to copper histidine treatment. 2.3. Laboratory findings Low serum copper and ceruloplasmin levels5 are diagnostic for the disease. Other supportive lab findings include hypercalciuria, albuminuria, aminoaciduria and increased excretion of b2 microglobulin. Urinary homovanillic acid/ vanillylmandelic acid ratio 4 strongly suggests the disease and thus could be used for screening. 2.4. Differential diagnosis Presence of metaphyseal widening makes rickets an important differential for this disease. Another common differential for presence of subdural haematomas of different ages is battered baby syndrome. However, the neurodevelopmental history, typical hair and biochemical markers as described are specific for Menkes syndrome. 3. 305 Conclusion The diagnosis in our case was made based on clinicoradiologic and laboratory findings. Treatment of the disease is conservative with anticonvulsants. Copper supplements like intravenous copper or copper histidine have been tried. Copper histidine was not given in our case due to lack of availability. Conflicts of interest All authors have none to declare. references 1. Datta Asok K, Ghosh Taraknath, Nayak Kaustav, Ghosh Mrinalkanti. Menkes kinky hair disease: a case report. Cases J. 2008;1:158. http://dx.doi.org/10.1186/1757-1626-1-158. 2. Gandhi Rozil, Kakkar Ritu, Rajan Sajeev, Bhangale Rashmi, Desai Shrinivas. Menkes kinky hair syndrome: a rare neurodegenerative disease. Case Rep Radiol. 2012;2012:684309. 3. Kamolsilp MD Mahattana. Menkes syndrome: a case report. J Med Assoc Thai. 2005;88(suppl 3):S290eS294. 4. Tumer Zeynep, Møller Lisbeth B. Menkes disease. Eur J Hum ¨ Genet. 2010 May;18(5):511e518. 5. Barzegar Mohammad, Fayyazie Afshin, Gasemie Bobollah, Shoja Mohammad Ali Mohajel. Menkes disease: report of two cases. Iran J Pediatr. 2007;17(3):388e392.
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