[Characteristics and prognosis of visual deficit caused by parasellar meningiomas].

UNLABELLED: Meningiomas are the most common slow growing tumors of the central nervous system which arise from the arachnoid cells. One certain group of them--tuberculum sellae (TS), cavernous sinus (CS), anterior clinoid (AC), and planum sphenoidale (PS) meningiomas, a group often called "parasellar", present with monocular or binocular visual deterioration, which is often unrecognized by patients until visual loss is severe and the tumor has reached a significant size. AIM: To describes the type of visual deficit, severity of the symptoms and surgical treatment of tumors with the above mentioned localization. MATERIAL AND METHODS: During the period 2003-2007 year, 93 patients (31 man, 62 women) diagnosed with meningiomas of the TS (31 cases), CS (16 cases), AC (21 cases), PS (17 cases), (see text) - 8, were diagnosed and operated on in the Department of Neurosurgery, University Hospital "St. Ivan Rilsky", Sofia, Bulgaria. Retrospective analysis was done. RESULTS: Age at diagnosis ranged from 12 to 74 years, but the majority of cases were in the 5th and 6th decade of life. Localization of was: TS 33%, CS 17%, AC 24%, PS 18% and with more than one area affected in 8 %. The most common symptom was slowly progressing loss of monocular visual acuity (81% of cases). 68% of patients presented with already severely deteriorated vision (0.1-0). Neuro-ophthalmological examination (see text) the patients. Computed tomography and magnetic resonance imaging were the main diagnostic methods. "Gross" total resection was achieved in 62%, subtotal in 12%, partial in 26% of the cases. There was early improvement in 57% of the patients. Death due to cardio-respiratory insufficiency occurred in one case. CONCLUSION: the progressive monocular visual deficit is often the first clinical symptom of the parasellar menigiomas. The early diagnosis is important for the success of surgery. Close collaboration between different specialists (ophthalmologists, neurologist and neurosurgeons) is essential for treatment of these tumors and prevention of the visual deterioration.

Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies.

Primary congenital glaucoma (PCG) is a genetically heterogeneous disorder of autosomal recessive inheritance, with mutations in the cytochrome P450 1B1 (CYP1B1) gene detected in an average of approximately 50% of cases worldwide. The Roma/Gypsies are considered to be a rare example of a single founder CYP1B1 mutation, E387K (identified in the Slovak Roma), accounting for 100% of disease alleles. Contrary to this concept, unusual genetic heterogeneity was revealed in this study of 21 Gypsy PCG patients from Bulgaria and 715 controls from the general Gypsy population. In our small sample of affected subjects, we identified five different CYP1B1 mutations - four known (E229K, R368H, E387K and R390C) and one novel and potentially pathogenic (F445I), which together accounted for approximately 30% of disease alleles. E387K was rare in both the patient and the control group, indicating that its high frequency in the Slovak Roma is the product of local founder effect not representative of the overall molecular pattern of PCG in the Gypsy population. Data on other Mendelian disorders and on the population genetics of the Gypsies suggest that a true founder mutation is likely to exist and has remained undetected. Our analysis of another candidate gene, MYOC, and the GLC3B and GLC3C loci did not provide support for their involvement. The molecular basis of PCG in the Gypsies is thus unresolved, and diagnostic analyses should be extended beyond the E387K mutation.

Treatment for diabetic mononeuropathy with alpha-lipoic acid.

Twenty-three diabetic patients -- 16 men and seven women (mean age: 50.7 +/- 17.4 years; mean duration of diabetes: 13.6 +/- 6.9 years) -- with diabetic mononeuropathy of the cranial nerves participated in the study. Four of them were with mononeuropathia multiplex and total ophthalmoplegia, affecting the oculomotor, trochlear and abducent nerves; 12 with paresis of the oculomotor nerve, one -- of the trochlear nerve and six -- of the abducent nerve. They were treated with alpha-lipoic acid (600 mg) for 10 days daily intravenously, thereafter one film tablet of 600 mg daily for 60 days. On the 10th day, we found significant improvement in the clinical signs of diabetic mononeuropathy - double vision, motility and position of the eyeball, ptosis of the upper eyelid and mydriasis. The mean period of oral treatment was 69.1 +/- 23.8 days, following the 10-day intravenous application of alpha-lipoic acid, and full recovery of the diabetic mononeuropathy was achieved with this therapeutic approach. Peripheral neuropathy was present in 17 patients (74%). On the 10th day, we established a decrease in total symptom score by an average of 2.7 +/- 1.4 points and by the end of the treatment period it was improved by 5.9 +/- 1.9 points (p = 0.04). On the 10th day, we found a decrease of 33% in foot pain and by the end of the second month, it fell by 65.5% (p < 0.0001). Vibration perception threshold was reduced in these patients at entry -- mean: 2.42 +/- 1.8 at the great toe, 2.89 +/- 1.8 at the first metatarsal and 3.65 +/- 1.7 at the medial malleolus. By the end of the second month, it reached mean 4.7 +/- 1.8 (p < 0.002) at the great toe, 4.92 +/- 2.1 (p = 0.004) at the first metatarsal and 5.3 +/- 1.4 (p < 0.01) at the medial malleolus. Cardiovascular autonomic neuropathy was present in two of the patients and there was improvement after treatment in the Ewing's tests -- Valsalva manoeuvre, deep-breathing test and lying-to-standing test. The results of our study demonstrate that alpha-lipoic acid appears to be an effective drug in the treatment for not only peripheral and autonomic diabetic neuropathy, but also diabetic mononeuropathy of the cranial nerves leading to full recovery of the patients.

[Ophthalmological symptoms in patients with internal carotid artery pathology]. / Oftal'mologicheskie simptomy u bol'nykh s patologiei vnutrennei sonnoi arterii.

Ophthalmologic examinations were carried out in 92 patients, mean age 55.4 years, with internal carotid artery abnormalities (stenoses and thromboses) confirmed by dopplerography. Various visual disturbances were diagnosed, the most prevalent ocular symptom being transitory homolateral blindness which was detected in 28 (30.4%) patients. Optic disk abnormalities were found in 9 (9.8%) patients, thrombosis (embolism) of the central retinal artery or its branch in 3 (3.3%); 6(6.5%) patients developed monolateral retinopathy which resulted from persistent retinal hypoxemia, and only 1 (1.1%) patient presented with ischemic oculopathy. Later developing neurologic and ophthalmologic complications may be prevented if visual disturbances of this type, particularly transitory ones, are not neglected during diagnosis of carotid diseases.

[Neuro-ophthalmological examinations in craniopharyngiomas in childhood]. / Neirooftal'mologicheskie obsledovaniia pri kraniofaringiomakh v detskom vozraste.

The results of ophthalmologic examinations of 50 children with craniopharyngiomas are analyzed. The condition was diagnosed on the basis of clinical examinations, roentgenography, angiography, brain scintigraphy, and computer-aided tomography. In 48 cases the diagnosis was confirmed by histologic findings. The mean age of the patients was 9 years 6 months, both boys and girls were included in the study group. Vision acuity deterioration was detected in 69.6% of children, optic disk edema in 22% and atrophic changes of the disk in 52% of the examinees. Vision field defects were revealed in 67.7%, nystagmus in 4 cases, oculomotor nerve paresis in 6 cases. The authors emphasize timely employment of conventional and present-day x-ray examinations, that are highly informative in such conditions, in all the patients with vision disorders of unknown origin and with suspected compression of the visual routes.

Neuroophthalmological symptoms in children treated for internal hydrocephalus.

The object of the study are 126 children with internal hydrocephalus treated within the period 1978-1990. The children were preoperatively divided into six groups according to the etiology of the hydrocephalus. Disorders of the visual functions accompanying elevated intracranial pressure (setting sun 51, syndrome of the aqueduct of Sylvius 14, paresis of craniocerebral nerves 9, nystagmus 8, optic atrophy 4) were established preoperatively in 48.4% of the children. 44 of the children were revised because of malfunction of the shunt with the following neuroophthalmological symptoms: setting sun 6, paresis of craniocerebral nerves 9, syndrome of the Sylvius aqueduct 6, papilledema 6, optic atrophy 9 and nystagmus 5. The fact that a great many changes in the visual functions sometimes precede the manifestations of the changes in CT image determines their significance for early diagnosis and treatment.

Comparative ophthalmologic studies on children and adults with craniopharyngiomas.

The subjects of the study are 74 patients with craniopharyngiomas treated at the Clinic of Neurosurgery, Bulgarian Medical Academy, within the period 1960-1989. Fifty of the patients are children and 24 adults. The diagnosis of all patients is made on the base of clinical, X-ray and histological studies. The ophthalmologic state was studied in all patients, prior to operation, via routine methods. Reduced visual acuity was established in 69.6% of the children and 81.8% of the adults. The presence of congestive optic papilla was diagnosed in 22% of the children and 12.5% of the adults. Optic atrophy was established in 62.5% of the adults and 52% of the children. Various defects in the visual field were established in 67.7% of the children and 81.8% of the adults with the predomination of bitemporal defects. The use of highly informative conventional and modern X-ray methods is recommended in all patients suspected of compression of the visual pathways.

Two cases of pseudohypoparathyroidism in a family with type E brachydactylia.

The authors described two sisters with pseudohypoparathyroidism, who had shortening of the metacarpal and metatarsal bones, irregular shortening of the phalanges, resulting in brachydactylia; short stature, moon-like face, in association with manifestation of tetany and metabolic anomalies (hypocalcemia and hyperphosphatemia in one of the patients). Investigation into the genealogy of the patients ascertained their father and grandmother to be of the same constitutional type: small in stature, moon-like face, shortened metacarpal bones (less marked); in the absence of any manifestations of tetany and metabolic anomalies. Evidently, in genealogies with type E brachydactylia of pure form one may expect the occurrence of disorders of the type of pseudohypoparathyroidism. As regards differential diagnosis, consideration should be given in hypoparathyroidism, pseudo-pseudohypoparathyroidism, and other syndromes with brachydactylia.