A. M. Bardelli

MRI of Wolfram syndrome (DIDMOAD).

Abstract Wolfram syndrome (DIDMOAD) is a rare diffuse neurodegenerative disorder characterised by diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and a wide variety of abnormalities of the central nervous system, urinary tract and endocrine glands. It may be familial or sporadic. Reported features on MRI of the brain are absence of the physiological high signal of the posterior lobe of the pituitary, shrinkage of optic nerves, chiasm and tracts, atrophy of the hypothalamic region, brain stem, cerebellum, and cerebral cortex. We report a 12-year-old girl with a 5-year history without brain stem, cerebellar or cerebral atrophy. MRI showed an unusual feature: a focus of high signal on PD- and T2-weighted images in the right substantia nigra. This is consistent with previously reported neuropathological post-mortem studies, but has never been reported in vivo.

Schnyder corneal crystalline dystrophy: description of a new family with evidence of abnormal lipid storage in skin fibroblasts.

Schnyder corneal crystalline dystrophy (SCCD) comprises corneal opacities often associated with precocious arcus senilis and genua valga. The metabolic defect seems to be related to abnormal lipid storage in the central part of the cornea, especially the anterior stroma, consisting mainly of nonesterified cholesterol. Plasma lipid levels are not always increased suggesting that the disease may be due to abnormal lipid metabolism limited to the cornea. We observed a family with typical SCCD, in 1 case associated with mental retardation and mild cerebellar hypoplasia. Results of serum lipid analysis of all patients were normal. Ultrastructural study of a skin biopsy specimen and fibroblast pellet showed membrane-bound spherical vacuoles containing lipid material. Cultured fibroblasts stained by filipin, a fluorescent probe that specifically binds unesterified cholesterol, showed abnormal cytoplasmic fluorescent material, suggesting abnormal cholesterol metabolism. The presence of neurological impairment, associated with SCCD in 1 of our cases, may be regarded as coincidental. Evidence of storage lipids in skin and cultured fibroblasts suggests that the disorder of intracellular cholesterol metabolism is not limited to the cornea and that skin biopsy may be a useful method to confirm the diagnosis.

Ocular manifestations in Kniest syndrome, Smith-Lemli-Opitz syndrome, Hallermann-Streiff-François syndrome, Rubinstein-Taybi syndrome and median cleft face syndrome

In the pathology of malformations it is only in very few cases possible to identify a complete syndromal picture; the authors present some multimalformative syndromes, observed in the past few years at the Department of Pediatric Ophthalmology of the University of Siena. The ocular findings are reported and discussed in relation with the general features in order to make a correct diagnosis.

Histochemical, Ultrastructural and Biochemical Study of Muscle Mitochondria in Leber’s Hereditary Optic Atrophy

Leber’s hereditary optic atrophy (McKusick 30890) is characterized by severe abiotrophy of the pregeniculate optic pathway with acute onset in young adults, often without any other neurological symptoms. Most of the affected patients are male, but the disease is usually transmitted by the female. The mechanism of this genetic non-mendelian maternal hereditary transmission is not yet known, but the most probable hypothesis is mitochondrial inheritance, as mitochondria and their genetic heritage are of maternal origin.

Congenital and developmental cataracts and multimalformation syndromes.

Cataracts are often found in association with many systemic disorders. Some are congenital in origin but in other cases they develop in early infancy or later in life. They are found in association with disorders, connective tissue disorders, neurological conditions, chromosomal abnormalities and dermatological disorders. Some of these syndromes have a genetic basis but often it is uncertain whether they are hereditary and often their cause is unknown.

A new use of corticosteroids in the combination therapy of a single orbital localization of Hand- Schuller-Christian disease

A case of Hand-Schuller-Christian disease with a single orbital localization successfully treated with surgical curettage and radiotherapy plus local infiltrations of corticosteroids is reported. This form of combination therapy, not previously described, is recommended for such single lesions.

MRI findings in Marinesco-Sjögren syndrome: Report of three cases with unusual features

Marinesco-Sjogren syndrome is an inherited neuro-ocular disease with spinocerebellar symptoms and cataracts. The authors report three cases, two of them belonging to the same family, with unusual magnetic resonance imaging findings, consisting of atrophy of optic nerve, optic chiasm and occipital cortex. Like in other progressive ataxias, the authors are probably dealing with different neuropathological and clinical forms, some of which combining atrophy of the optic nerve and optic pathway with the basic features of cerebellar and brain stem atrophy.

Colobomatous ocular cyst presenting as an orbital tumor

Colobomatous orbital cyst is a rare malformation consisting of a cavity lined by neuroectodermic tissue and communicating with the vitreous cavity. It may be associated with microphthalmos and is caused by the impaired closure of the embryonic fissure. The authors report a case observed in a four-month-old male child who had been referred for a suspected orbital angioma. In the left inferior orbit, a round, elastic, bluish mass was seen. LE appeared slightly microphthalmic. RE fundus was characterized by a posterior coloboma. MRI showed a large round mass occupying the whole inferior left orbit; no communication with the vitreous cavity was evident, nor had the mass a cystic appearance. On T1, T2 and proton-weighted images the signal intensity of the mass was slightly superior to that of the vitreous. CT-scan and B-scan ultrasonography showed in LE a large elliptic coloboma communicating with a normally structured eyeball; on CT the cyst and the eyeball had isodense contents. The possibly different fluid ...