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Galactosialidosis
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
Neurologic features include generalized seizures and myoclonus, ataxia, and impaired mental development. Deterioration may be progressive. Deep tendon reflexes are brisk [26]. Bilateral cherry red spots are found in most patients (Figure 97.7). There may be corneal clouding, punctate lenticular opacities, and loss of visual acuity. Other patients have no neurologic abnormalities.
Metabolic Diseases
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Stephanie Grünewald, Alex Broomfield, Callum Wilson
The sphingolipidosis disorders refer to a group of lysosomal storage disorders that in their classical form are notable for progressive and relentless neurological decline with relatively few other organ manifestations. In the severe forms of the conditions, onset is in infancy and is rapidly progressive over months leading to severe encephalopathy and death. These children usually have, albeit sometimes brief, a period of normal development followed by a plateauing of developmental progress and then actual regression. This may be exacerbated by intercurrent illness. Features such as epilepsy, macrocephaly, hyperacusis, visual impairment and spasticity are seen. The degree of irritability especially in Krabbe is extremely distressing to the family. There are no skeletal manifestations, usually minimal hepatomegaly (except in Niemann-Pick disease) and unlike in MPS disorders, coarse facial features are not seen. Retinal cherry red spots can sometimes be observed and loss of vision is common. The late infantile onset metachromatic leukodystrophy (MLD) has a very classical presentation whereby the previously near normal development plateaus at between 12 months to 2 years with subsequent aggressive regression and loss of any skills.
Positions in neurosurgery
Published in Hemanshu Prabhakar, Charu Mahajan, Indu Kapoor, Essentials of Geriatric Neuroanesthesia, 2019
Zilvinas Zakarevicius, Mikhail Gelfenbeyn, Irene Rozet
Central retinal artery occlusion (CRAO) is another rare cause of POVL, which is known to be related to direct or indirect pressure on the globe (16). Clinical features include unilateral periorbital and scleral swelling; fundoscopic examination reveals the hallmark “cherry red spot.” It has never been reported in patients using the Mayfield frame. The incidence of CRAO has remained constant (25).
Capturing the Occult Central Retinal Artery Occlusion Using Optical Coherence Tomography
Published in Current Eye Research, 2021
Shafi Balal, Ahmed Said J’Bari, Ali Hassan, Anant Sharma, Siegfried Karl Wagner, Saruban Pasu
A recent meta-analysis looking at intra-arterial thrombolysis (IAT) concluded that IAT has great potential but further controlled trials are needed.26 Evidence is emerging that intravenous fibrinolytic therapy (IFT) may be a more promising treatment modality when used within 4.5 h.27–29 Two randomised controlled trials, THEIA NCT03197194 (presently recruiting) under revision, investigating IFT in CRAO with symptom onset within 4.5 h will evaluate this modality further.30 As novel treatment strategies continue to be investigated and the use of OCT to diagnose CRAO early in its evolution may provide an additional window of opportunity for intervention. For instance, recently Hadanny and colleagues31 found hyperbaric oxygen therapy to be effective in CRAO before the onset of a cherry-red spot. They postulate based on their findings that cherry-red spot is a marker for irreversible anoxic retinal damage.
Heterozygous structural variation mimicking homozygous missense mutations in NEU1 associated with presenting clinical signs in eyes alone
Published in Ophthalmic Genetics, 2020
To reveal the origin of the NEU1 mutation of the patient from her father’s allele, whole genome sequencing (WGS) was conducted on genomic DNA from the patient and her parents. WGS confirmed that the parents are the biological father and mother of the patient. A copy number variation (CNV) located in chr6: g.31808000 ~ 31836000, suggesting a deletion in one allele, was detected in the patient (II:1) and her asymptomatic father (I:1) but not in her mother by WGS. In addition, heterozygosity of single nucleotide polymorphisms (SNPs) was lost at the region with deletion in WGS data from the patient and her father but not the mother, while heterozygosity appeared at g.31802684 and g.31836442 from WGS data of the patient and her father (Supplementary Table S3). These data from WGS suggested that a deletion of less than 34 kb in one allele was present in the patient and her father. In addition, no homozygous or compound heterozygous mutations were detected in the other eight genes associated with conditions causing cherry-red spots (Table 1). Moreover, no potential pathogenic mutations were identified in other functional genes, known disease-causing or novel genes, based on systemic analysis of the data from WGS.
Ocular Involvement in Systemic Lupus Erythematosus: The Experience of Two Tertiary Referral Centers
Published in Ocular Immunology and Inflammation, 2018
Rosanna Dammacco, Pasquale Procaccio, Vito Racanelli, Angelo Vacca, Franco Dammacco
The second patient experienced a central retinal artery occlusion (CRAO), an emergency condition that is considered the ocular analogue of cerebral stroke52 and has been described as possible initial manifestation of SLE.45,53 At the time of the first diagnosis of a severely active SLE, she complained of headache and dizziness associated with rapidly increasing, painless vision loss in her right eye, which eventually resulted in hand motion as BCVA. No signs and symptoms of giant cell arteritis of the temporal artery (such as fever, malaise, temporal tenderness, jaw claudication, shoulder and pelvic girdle pain) were present. Fundus examination was normal in the left eye, whereas retinal artery attenuation and whitening of the retina with a cherry-red spot in the fovea were observed in the right eye. SD-OCT of the same eye revealed marked edema of the macula and a delay in arterial filling at the early to late phase, but no emboli were detected by FFA. Cherry-red spots and a ground-glass retina became visible the next morning.