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Incontinentia Pigmenti with Sensorimotor Polyneuropathy: A Letters to Editor T1 relaxation time sufficient to produce pallidal T1 5. Saini J, Kesavadas C, Thomas B, Kapilamoorthy TR, Gupta AK, hyperintensity in hepatolenticular degeneration.[4] Radhakrishnan A, et al. Susceptibility weighted imaging in the diagnostic evaluation of patients with intractable epilepsy. Epilepsia Manganese is also used as MR contrast due to the 2009;50:1462-73. above properties but surprisingly SWI failed to show 6. Foese G, Gorter CJ, Smits LJ. Constantes Selectionnees Diamagnetisme, any blooming. Interestingly, calcification containing Paramagnetisme, Relaxation Paramagnetique. Masson, Paris: 1957. diamagnetic calcium is visualized in SWI and hence is 7. Abe K, Hasegawa H, Kobayashi Y, Fujimura H, Yorifuji S, Bitoh S. [5] A gemistocytic astrocytoma demonstrated high intensity on MR images: used in the seizure MR imaging protocol. The magnetic Protein hydration layer. Neuroradiology 1990;32:166-7. susceptibility of paramagnetic manganese is much higher than diamagnetic calcium.[6] The association of Accepted on 23-10-2009 manganese deposition and T1 hyperintensity is well known but the causation is not well established. Incontinentia pigmenti In view of normal SWI many questions remain unanswered. Are there local tissue factors affecting the with sensorimotor paramagnetic properties of accumulated manganese in basal ganglia? Is manganese accumulation just an polyneuropathy: A novel inciting event and the observed T1 hyperintensity due to some other cause? In cases with hepatolenticular association degeneration, microscopic examination of the pallidum shows Alzheimer type II astrocytes without any Sir, calcification, melanin deposition or hemorrhage to We report a patient with Incontinentia Pigmenti (IP) account for the T1 hyperintensity.[1] Primate and human and peripheral neuropathy, an association not reported studies have shown that astrocytic accumulation earlier. of manganese increases glutamate/glutamine with simultaneous decrease in myo-inositol, inducing A 16-year-old girl presented with 3½ years history selective neuronal loss in the basal ganglia structures of dragging of left foot and inability to grip slippers, and reactive gliosis (Alzheimer type II astrocytes).[2,3] and 2½ years history of weakness of hands followed The T1 hyperintensity may be due to the intracellular by proximal weakness of lower limbs and numbness macromolecule accumulation due to energy failure or of hands and feet. She had pigmentation of left half could result from the protein hydration layer inside the of body since birth, global developmental delay cytoplasm of astrocytes.[2,7] Further studies delving into and a congenital dermoid cyst of the scalp removed these issues are needed to understand the pathological at 1½ years of age. On examination, there was left mechanisms underlying T1 hyperintensity in acquired hemiatrophy and hyperpigmentation along the lines hepatolenticular degeneration. of Blaschko over the left upper limb, trunk and lower limb, some showing a Chinese check-board pattern consistent with the diagnosis of IP[1] [Figure 1]. She had mild mental retardation and pigmentary retinopathy. Neeraj N. Baheti, Haseeb Hassan, There was bilateral pes cavus, hammer toes, flexion Chaturbhuj Rathore, Syam Krishnan, contractures of fingers at proximal interphalangeal Chandrasekharan Kesavadas1 joint, wasting of small muscles of hands, spasticity of Departments of Neurology and 1Imaging Sciences and Interventional Radiology, Sree Chitra Tirunal Institute for Medical Sciences and lower limbs and moderate distal weakness of upper Technology, Thiruvananthapuram - 695 011, India. and lower limbs. There was a 25% reduction of pain E-mail: [email protected] and touch sensations in the upper limbs distal to mid- PMID: *** forearm, and lower limbs distal to the knees, impaired DOI: 10.4103/0028-3886.59489 position sense in all limbs and vibration over toes, References areflexia and flexor plantars bilaterally. Her stance was wide-based with high steppage, ataxic gait. Systemic 1. Klos KJ, Ahlskog JE, Kumar N, Cambern S, Butz J, Burritt M, et al. examination was normal. Brain metal concentrations in chronic liver failure patients with pallidal T1 MRI hyperintensity. Neurology 2006;67;1984-9. 2. Rovira A, Alonso J, Cordoba J. MR imaging findings in hepatic Nerve conduction studies showed unrecordable encephalopathy. Am J Neuroradiol 2008;29:1612-21. median, ulnar and sural sensory nerve action 3. Newland MC, Ceckler TL, Kordower JH, Weiss B. Visualizing potentials, with prolonged latencies and reduced manganese in the primate basal ganglia with magnetic resonance amplitudes of the common peroneal and posterior tibial imaging. Exp Neurol 1989;106:251-8. 4. Uchino A, Noguchi T, Nomiyama K, Takase Y, Nakazono T, Nojiri J, compound motor action potentials. Magnetic resonance et al. Manganese accumulation in brain: MR imaging. Neuroradiology imaging (MRI) of brain showed a parenchymal cyst in 2007,49:715-20. the left hippocampus. Histopathological evaluation Neurology India | Nov-Dec 2009 | Vol 57 | Issue 6 813 Letters to Editor of sural nerve showed chronic uniform axonopathy system.[2,3] Early mental subnormality, spasticity, (predominantly large fiber) with mild regenerative hemiatrophy, cystic lesion in hippocampus and activity [Figure 2]. These features were consistent pigmentary retinopathy were the central nervous system with hereditary neuropathy of axonal type. She anomalies in our patient. Peripheral nervous system was not exposed to toxins, not diabetic, had normal abnormalities have not been reported in IP. Peripheral liver and renal functions, normal hemogram, ESR of nerves are derivatives of the neuroectodermal placode 40 mm/h, negative RA factor, LE cell and ANA, and while the perineurium develops from the mesoderm.[4] no systemic symptoms to suggest any acquired cause Hence, the association of peripheral neuropathy in our of neuropathy. patient with IP can be explained by the hypothesis of common embryological origin from the neuroectoderm. The neuroectodermal manifestation of IP involves the The presence of a later onset of polyneuropathy in skin, hair, teeth, nails, eyes and the central nervous adolescence is also unusual considering that most Figure 1: (a-c) Hyperpigmentation along the lines of Blaschko over the left leg, hand and trunk, some showing a Chinese check-board pattern, (d) Hammer toes, early pes cavus and pigmentation of the left foot Figure 2: Histopathology of left sural nerve shows: (a) Features of chronic uniform axonopathy with mild regenerative activity (H and E stain, 350), (b) Higher magnification reveals predominant loss of large myelinated fiber with occasional regenerating cluster (K-pal stain for myelin, 3320), (c) Neurofilament immunostaining for axons highlights the depletion of large diameter axons. Regenerative axonal sprouting is visible as clusters of dot like brown staining of the smaller diameter axons (Neurofilament Immunohistochemistry, 3320) 814 Neurology India | Nov-Dec 2009 | Vol 57 | Issue 6 Letters to Editor symptoms manifest in early childhood. Though IP uveitis involving the right eye for the last 2 years. His is a relatively non-progressive disorder, this late first evaluation 2 weeks into the illness showed reduced presentation may either suggest a later detection visual acuity (20/200) in the right eye, the left eye being only after significant weakness has set in or a more normal (20/20). The anterior chamber showed flare progressive course of IP. with hazy media. Evaluation for sarcoid, tuberculosis, syphilis and vasculitis was negative. He was initiated on steroids, with total improvement over 4 weeks. He later Sanju P. Joy, Samhita Panda, Girish B. Kulkarni, discontinued steroids due to weight gain. One month Pramod Kumar Pal, Yasha T. Chickabasaviah1, after stopping steroids, he developed redness of the Rajani R. Battu2 same eye with visual deterioration. Evaluation showed Departments of Neurology, 1Neuropathology, National Institute of exudative retinal detachment. Eventually, he developed Mental Health and Neurosciences, 2Vitreoretinal Services, Narayana complicated cataract and prepthisical changes. He also Netralaya, Bangalore, India. had two episodes of low-grade fever with headache and E-mail: [email protected] terminal neck stiffness without altered sensorium or focal PMID: *** deficits and was treated symptomatically. Examination DOI: 10.4103/0028-3886.59490 at the present admission revealed patches of vitiligo References on his back. Visual acuity was 20/20 in the left eye and no perception of light in the right eye. Ophthalmic 1. Landy SJ, Donnai D. Incontinentia pigmenti (Bloch-Sulzberger syndrome). J Med Genet 1993;30:53-9. evaluation showed phthisis bulbi and complicated 2. Pinheiro A, Mathew MC, Thomas M, Jacob M, Srivastava VM, cataract in the right eye [Figure 1]. The left eye showed Cherian R, et al. The clinical profile of children in India with pigmentary optic disc edema, tortuous veins and choroidal folds anomalies along the lines of Blaschko and central nervous system [Figure 2]. Neurological examination showed gaze- manifestations. Pediatr Dermatol 2007;24:11-7. 3. Hadj-Rabia S, Froidevaux D, Bodak N, Hamel-Teillac D, Smahi A, Touil Y, et al. Clinical study of 40 cases of incontinentia pigmenti Arch Dermatol 2003;139:1163-70. 4. Halata Z, Grim M, Christ B. Origin of spinal cord meninges, sheaths of peripheral nerves, and cutaneous receptors including Merkel cells. An experimental and ultrastructural study with avian chimeras
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