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| Discussion |
CLINICAL
PROFILE:
A 30-year-old female, married since 12 yrs , presented with complaints of headache, tingling and numbness of the left lower limb and decreased visual acuity since three months . She gave history of seizures since seven years. She had also progressive multiple dark-colored, raised lesions over face, neck, axilla, both cubital fosse and the popliteal fosse bilaterally.
On Examination
Higher functions were normal. There were increased deep tendon reflexes in the left lower limb with extensor lplantar reflex on the left.
Skin Examination: Multiple yellow to brown waxy papules coalescing to form plaques were seen in the neck and periorbital region; these were associated with scarring. The palms, soles and oral cavity were spared (Fig A, B, C)
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Fig. A |
Fig: B |
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Fig. C |
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In the left e, there was loss of lid folds with hyperpigmented patches over upper eye lid. The lower lid was everted with trichiasis and congestion being present. Peripheral corneal opacities; and bilateral jerky nystagmus were present with moderate frequency and amplitude in all gazes. There was mild lagopthalmus was bilaterally. Both eyes had complete iris coloboma extending into ciliary margin and both eyes had pseudopterygium temporally.
Investigations:
Routine haematology investigations were within normal limit. The lipid profile was normal.
Radiological Investigation:
MR Imaging of the rain:
Abnormal T2W hyperintense signal in the left gangliocapsular region, subthalamus, bilateral temporal lobe, right insular cortex, predominantly involving the pons and bilateral cerebellar hemisphere. (Fig 1, 2, 3, 4) were seen.
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Fig. 1 |
Fig. 2 |
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Fig. 3 |
Fig. 4 |
On contrast study, there was intense nodular enhancement in the involved areas with solid enhancement in the region of the right basal ganglia. Tiny nodular areas of enhancement were seen scattered throughout both cerebral hemispheres in the fronto-parietal region. (Fig 5, 6, 7, 8, 9)
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Fig. 5 |
Fig. 6 |
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Fig. 7 |
Fig. 8 |
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Fig. 9 |
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Biopsy of Skin Lesion : Showing Reticulohistocytoma ( Fig D).
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Fig. D |
DIAGNOSIS: Xanthoma Disseminatum
Xanthoma disseminatum (XD) is a rare, benign proliferative disorder in children and adults characterized by disseminated xanthomatous lesions. It is a histiocytic disorder of non-Langerhans cell origin characterized by xanthomatous deposits affecting skin and mucosa in the absence of hyperlipidemia. Categorised as a histiocytosis syndrome, This condition was first described in 1938 by Montgomery and Osterberg. Three clinical variants are described on the basis of disease progression and prognosis: a common persistent form, a less common progressive form with systemic involvement, and a rare form of self-limited disease. Central nervous system (CNS) involvement is rare and usually occurs in the systemic variety. XD typically involves the skin, particularly the flexor skin folds and eyelids while the natural history of XD is usually benign with spontaneous resolution of cutaneous lesions over 2–40 years, lesions in critical anatomical locations may result in morbidity and mortality. Curative therapy for XD is lacking. While symptomatic lesions may be managed with conservative surgery, the roles of radiotherapy (RT) and chemotherapy are unclear.