From the inside out: oculocerebrocutaneous syndrome without dermatological manifestations.

Delleman-Oorthuys or oculocerebrocutaneous syndrome (OCCS) is an extremely rare condition which relies on three pillars of manifestations: ophthalmological, neurological, and dermatological. It was first described by Delleman and Oorthuys in 1981, and since then, very few other cases have been reported. We report the case of a 13-month-old boy, referred to an ophthalmological tertiary service for investigation of a microglobe with a cystic retrobulbar mass on translucency test. MRI revealed a left microphthalmia, with extensive retrobulbar cystic lesions occupying the remaining orbit and protruding anteriorly the microglobe. Cerebral findings included polymicrogyria, subependymal nodular heterotopia at the level of the left occipital horn of the lateral ventricle, and an importantly enlarged mesencephalic tectum observed in association with an absent cerebellar vermis. The ensemble of malformations met the criteria for definite OCCS. Being a tremendously rare syndrome, OCCS will always represent a diagnostic challenge. However, its emblematic cutaneous manifestations might be an important part of the road map leading to its correct interpretation. Thus, when absent, diagnosis can be harder than usual, and, on these cases, neurologists, ophthalmologists, and radiologists play a crucial role.

Bone marrow burden score is not useful as a follow-up parameter in stable patients with type 1 Gaucher disease after 5 years of treatment.

INTRODUCTION: Gaucher disease (GD) is one of the most prevalent lysosomal disorders, with an estimated incidence of 1 in 40,000 live births worldwide. Skeletal involvement is one of the main features of GD, causing morbidity and impacting long-term quality of life in patients with type 1 GD. OBJECTIVES: To characterize bone marrow infiltration in patients with type 1 GD followed at the Gaucher Disease Referral Center of Porto Alegre, Brazil, and to assess whether the Bone Marrow Burden score (BMB) correlates with clinical or laboratory parameters. We also evaluated whether the BMB score is a suitable parameter for long-term follow-up of patients with type 1 GD. METHODS: All included patients underwent magnetic resonance imaging for BMB score calculation at baseline, 1 year, and every other year thereafter or as clinically indicated from 2012 to 2018. RESULTS: The BMB score tended to decrease during the first 5 years of treatment, at a rate of -1.08 points per year; after the 5-year mark, BMB tended to remain stable. CONCLUSIONS: The BMB score is useful for response monitoring in the first five years of treatment. We recommend that, after 5 years of treatment, MRI for BMB evaluation should only be performed in non-adherent patients or in those who develop symptoms of acute skeletal disease.

Incomplete hippocampal inversion: diagnostic criteria and effect on epilepsy, seizure localization and therapeutic outcome in children.

PURPOSE: Elaborate a simple Magnetic Resonance Imaging (MRI)-based score to define Incomplete Hippocampal Inversion (IHI) in children (Phase 1), and evaluate the relation of IHI with (A) epilepsy, (B) seizure localization and (C) therapeutic response in a paediatric population (Phase 2). METHODS: In Phase 1, incompletely inverted hippocampi were matched to completely inverted hippocampi. Multiple qualitative and quantitative hippocampal and extra-hippocampal features were evaluated in coronal-oblique T1-weighted (T1W) and coronal T2-weighted (T2W) images. Multivariate analysis was performed to elaborate the MRI-based score to define IHI. In Phase 2, epilepsy patients were matched to controls, and the T1W and T2W scores were applied. Multivariate analysis was performed to assess the relation of IHI and epilepsy, seizure localization and therapeutic response. RESULTS: The hippocampal diameter ratio and parahippocampal angle in the coronal-oblique T1-weighted images, and the hippocampal diameter ratio and collateral sulcus depth in the coronal T2-weighted images predicted IHI in Phase 1. Simple and practical imaging-based scores were developed and are available on the website: https://ihiscore.netlify.app/. The Area Under the Receiver Operating Characteristic Curve of the T1W and T2W scores were, respectively, 0.965 and 0.983. In Phase 2, IHI independently predicted epilepsy (OR = 3.144, 95% CI = 1.981-4.991, p < 0.001), temporal lobe epilepsy (OR = 4.237, 95% CI = 1.586-11.318, p = 0.004), and drug resistant epilepsy (OR = 7.000, 95% CI = 2.800-17.500, p < 0.001). CONCLUSION: The association between IHI and temporal lobe epilepsy (and the lack of association with extra-temporal epilepsy) favours the possibility of a relation between IHI and the pathophysiology of seizures in epileptic patients. Furthermore, IHI is a potential prognostic marker for therapeutic response in epilepsy.

Rare GBA1 genotype associated with severe bone disease in Gaucher disease type 1.

INTRODUCTION: Gaucher disease (GD) type 1 is a lysosomal disease characterised by hepatosplenomegaly, anemia, thrombocytopenia, bone changes, and bone marrow infiltration. The disease is caused by biallelic pathogenic variants in GBA1 which codes for glucocerebrosidase, an enzyme involved in the catabolic pathway of complex lipids. AIMS: To report on the case of two sisters with GD type 1 who bear a genotype never reported in the literature. CASE REPORT: Patient 1 is a 47-year-old female diagnosed at 42 years of age with chronic lumbar pain, mild splenomegaly, slightly reduced platelets and normal hemoglobin values, severe Bone Marrow Burden (BMB) score, high chitotriosidase activity, and low glucocerebrosidase. Patient 2 is a 50-year-old female, sister of patient 1, who was diagnosed after familial screening. At 45 years of age, she had osteonecrosis of the left femur and a total hysterectomy because of uncontrollable bleeding. At first evaluation, she had bone pain with a high BMB score, mild splenomegaly, normal hemoglobin, normal platelets count, elevated chitotriosidase activity, and low glucocerebrosidase activity. Both patients were found to be compound heterozygotes for the p.Glu388Lys and the p.Ser405Asn variants in GBA1. CONCLUSIONS: This is the first family with GD and this combination of variants which causes a phenotype remarkable for severe bone disease with no or mild hematological manifestations.

Acute up-beating nystagmus in a pregnant woman with hyperemesis gravidarum.

PURPOSE: To describe a case of sudden onset of nystagmus in a pregnant patient with hyperemesis gravidarum. OBSERVATIONS: Sixteen days after onset of persistent nausea and uncontrollable vomiting, a 12 week pregnant woman presented up-beating nystagmus, mild memory impairment and reduced sensitivity in the lower limbs. Laboratory tests presented thiamine deficiency and magnetic resonance imaging showed bilateral medial thalami and midbrain lesions. Because of suspected Wernicke's encephalopathy, the patient was treated with thiamine replacement and significant improvement of symptoms took place. CONCLUSIONS AND IMPORTANCE: Uncontrollable vomiting can lead to malabsorption of vitamin B1 causing acute onset of nystagmus.

MRI hydrographic 3D sequences in CADASIL.

Two patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) (figure), evolving with cognitive deterioration, had MRI. Hydrographic 3D high-resolution turbo spin-echo (TSE) with variable flip angle sequence (SPACE) was performed to demonstrate the subcortical lacunar lesions (SLL) (figure, A and B), considered specific in CADASIL.(1.)

Brain proton magnetic resonance spectroscopy: introduction and overview.

Magnetic resonance (MR) spectroscopy offers a noninvasive means of assessing in vivo brain metabolites that shed light on cellular concentrations, cell function and dysfunction, cellular energetics, presence of ischemia, and presence of necrosis, among others. Studies obtained at higher field strengths are evolving toward sampling of smaller tissue volumes, greater signal-to-noise ratio, and higher metabolic spatial resolution. This article discusses the usefulness, from the clinical standpoint, of MR spectroscopy in various disorders. However, to be valid and significant the results of MR spectroscopy should always be correlated with their imaging counterparts.

Reproducibility of quantitative fiber tracking measurements in diffusion tensor imaging of frontal lobe tracts: A protocol based on the fiber dissection technique.

BACKGROUND: Diffusion tensor imaging (DTI)-based tractography is a noninvasive in vivo method for tracing white matter bundles. This raises possibilities for qualitative and quantitative assessment of the structural organization of tracts. Nevertheless, questions remain about neuroanatomical accuracy, reproducibility for clinical purposes, and accessibility of the best method for broader application. The aim of this study was to combine the fiber dissection technique and tractography to provide more pertinent insight into brain anatomy and, as a result, to test a protocol for reconstruction of six major frontal lobe tracts. METHODS: A combination of fiber dissection of formalin-fixed brain tissue after freezing (Klingler's technique) and virtual dissection (tractography) was used to develop a protocol to reconstruct major frontal tracts. Apparent diffusion coefficient (ADC), fractional anisotropy (FA), number of voxels (NVO), volume (VOL), number (NTR), and length (LEN) of tracts were evaluated to assess intra- and interobserver reproducibility. Statistical reliability was evaluated using intraclass correlation coefficients (ICCs) and the Pearson association coefficient (r). RESULTS: The virtual dissection obtained by tractography seemed to reproduce the anatomic knowledge of the white matter tracts obtained through the classic method. In reliability study, most ICC and r values corresponded at least to large correlation. The magnitude of correlation was very high (ICC 0.7-0.9) or almost perfect (ICC 0.9-1.0) for the FA and ADC measures of every tract studied. CONCLUSION: The DTI protocol proposed herein provided a reliable method for analysis of reconstructed frontal lobe tracts, especially for the FA and ADC variables.

Posterior fossa malformation associated with cerebral anomalies: genetic and imaging features.

Many posterior fossa malformations are associated with other malformations particularly supratentorial ones, which tend to affect the prognosis of these patients. The role of the cerebellum in higher learning is just beginning to be understood, but it is obvious that cerebellar abnormalities may result in higher-cognition defects. Studies have demonstrated cerebellar abnormalities in patients with developmental encephalopathies, such as autism, mental retardation, and Rett syndrome. Disorders that affect cell life cycles and result in abnormal cell proliferation and abnormal cell migration disorders (hemimegalencephaly, dystroglicanopathy, lissencephaly, and gray matter heterotopia) can also be accompanied by posterior fossa malformations. In this article, we discuss hindbrain-midbrain malformations associated with developmental encephalopathies and with supratentorial brain abnormalities that result from abnormal cell proliferation and cell migration.

Anatomia microcirúrgica e abordagens ao seio cavernoso: um estudo tridimensional estereoscópico com correlação clínico-radiológica / Microsurgical anatomy and approaches to the cavernous sinus: an stereoscopic 3-D study with clinical-radiological correlations

O seio cavernoso é uma das regiões mais complexas do corpo humano e pode ser acometido por diversas patologias. Atualmente,diversos tipos de tratamento podem ser usados para tratar doenças nesta região, porém o conhecimento anatômico ainda é fundamental para estabelecer o melhor manejo. Nosso objetivo é apresentar a anatomia microcirúrgica do seio cavernoso,as abordagens cirúrgicas (incluindo a abordagem endonasalendoscópica), a correlação radiológica desta anatomia,bem como uma série inicial de casos. As fotos são apresentadas pelo método convencional e anaglífico estereoscópico. São descritas as estruturas neuro vasculares do seio cavernoso bem como suas relações ósseas e durais, as paredes e os triângulos da base do crânio relacionados ao seio cavernoso. As abordagens crânio-órbito zigomática, transpetrosa, zigomática e endonasal endoscópica são apresentadas, sendo as estruturas anatômicas identificadas também nos exames de imagem. Casos ilustrativos ilustram esta anatomia.

The cavernous sinus is one of the most complex regions of thehuman body and can be affected by several diseases. Currently,several types of treatment can be used in the management ofdiseases in this region. The anatomical knowledge is essentialto establish the best management. Our goal is to present themicrosurgical anatomy of the cavernous sinus, its surgical approaches(including the endoscopic endonasal approach), thecorrelation of radiological anatomy, including an initial seriesof cases. The anatomic features are presented by the conventionaland stereoscopic anaglyphic method. The neurovascularstructures of the cavernous sinus and its dural and bony relationships,triangles and the walls of the skull base related toit are presented with. We discuss the cranio-orbital zygomatic,transpetrosal, zygomatic and endonasal endoscopic approaches;MRI studies also show the anatomical structures, includingillustrative cases.