Study of lamina cribrosa depth and optic nerve in patients with spontaneous intracranial hypotension.

PURPOSE: The aim of this study is to analyze the lamina cribrosa depth and to study the optic nerve in patients with spontaneous intracranial hypotension. METHODS: A total of 10 eyes of the patients with spontaneous intracranial hypotension with unknown etiology (study group) and 10 eyes of healthy patients without any ophthalmological or neurological pathologies (control group) were included. The subjects were submitted to ophthalmological examination with the evaluation of visual acuity, spherical equivalent, applanation tonometry, pachymetry, axial length, retinography, computerized static perimetry (Humphrey 30-2 SITA-Standard), and OCT Spectralis with enhanced depth image, to calculate the depth of the anterior surface of the lamina cribrosa and to measure the nerve fiber layer thickness of the optic nerve. All of these parameters were compared between the two groups. RESULTS: Mean anterior surface of the lamina cribrosa depth was 447.96 ± 118.51 (313.30-632.0) µm for the spontaneous intracranial hypotension group and 292.56 ± 40.71 (247-387) µm for the control group, with a statistically significant difference between them (p = 0.001). The thickness of the nerve fiber layer did not differ significantly in the temporal (p = 0.94), nasal (p = 0.173), superior (p = 0.41), central (p = 0.36) or inferior (p = 0.5) sectors. Four eyes of patients with spontaneous intracranial hypotension showed a marked reduction in the temporal nerve fiber layer. Pachymetry (p = 0.16), axial length (p = 0.71), and intraocular pressure (p = 0.6) did not differ significantly between groups, whereas spherical equivalent (p = 0.03) was significantly different. Visual fields were normal in both groups. CONCLUSION: The translaminar gradient is determinant in the structure of the lamina cribrosa. Low intracranial pressure associated with a high translaminar gradient leads to an increased lamina cribrosa depth similar to that observed in glaucoma patients.

Parinaud's syndrome due to an unilateral vascular ischemic lesion.

A 59-year-old man who complained of binocular vertical diplopia after an exploratory laparotomy, complicated by cardiorespiratory arrest during anesthetic induction, was found to have Collier's sign, anisocoria, complete paralysis of upward vertical gaze associated with convergence-retraction nystagmus on attempted upgaze and skew deviation with hypertropia in the left eye without ptosis, and an absent Bielschowsky sign. Magnetic resonance imaging of the brain showed a small lesion in the left paramedian midbrain compatible with microvascular ischemic sequelae. This patient was diagnosed with Parinaud's syndrome (dorsal midbrain syndrome) associated with a vertical strabismus from an unilateral vascular ischemic paramedian midbrain lesion.

A Challenging Form of Non-autoimmune Insulin-Dependent Diabetes in a Wolfram Syndrome Patient with a Novel Sequence Variant.

Wolfram syndrome type 1 is a rare, autosomal recessive, neurodegenerative disorder that is diagnosed when insulin-dependent diabetes of non-auto-immune origin and optic atrophy are concomitantly present. Wolfram syndrome is also designated by DIDMOAD that stands for its most frequent manifestations: diabetes insipidus, diabetes mellitus, optic atrophy and deafness. With disease progression, patients also commonly develop severe neurological and genito-urinary tract abnormalities. When compared to the general type 1 diabetic population, patients with Wolfram Syndrome have been reported to have a form of diabetes that is more easily controlled and with less microvascular complications, such as diabetic retinopathy. We report a case of Wolfram syndrome in a 16-year-old male patient who presented with progressive optic atrophy and severe diabetes with very challenging glycemic control despite intensive therapy since diagnosis at the age of 6. Despite inadequate metabolic control he did not develop any diabetic microvascular complications during the 10-year follow-up period. To further investigate potential causes for this metabolic idiosyncrasy, we performed genetic analyses that revealed a novel combination of homozygous sequence variants that are likely the cause of the syndrome in this family. The identified genotype included a novel sequence variant in the Wolfram syndrome type 1 gene along with a previously described one, which had initially been associated with isolated low frequency sensorineural hearing loss (LFSNHL). Interestingly, our patient did not show any abnormal findings with audiometry testing.