Juliano Adams Pérez

Neuroimaging Findings in Patients with Mucopolysaccharidosis: What You Really Need to Know

Mucopolysaccharidosis (MPS) is an inherited metabolic disease and a member of the group of lysosomal storage disorders. Its hallmark is a deficiency of lysosomal enzymes involved in the degradation of mucopolysaccharides, also known as glycosaminoglycans (GAGs). The products of GAG degradation accumulate within lysosomes and in the extracellular space, thereby interfering with the degradation of other macromolecules. This process leads to chronic degeneration of cells, which in turn affects multiple organs and systems. There are seven distinct types of MPS (I, II, III, IV, VI, VII, and IX), which are divided into subtypes according to the deficient enzyme and the severity of the clinical picture. Although clinical manifestations vary considerably among the different types of MPS, the central nervous system (CNS) is characteristically affected, and magnetic resonance (MR) imaging is the method of choice to evaluate brain and spinal cord abnormalities. Enlarged perivascular spaces, white matter lesions, hydrocephalus, brain atrophy, cervical spinal canal stenosis with or without spinal cord compression and myelopathy, and bone abnormalities in the skull and spine (dysostosis multiplex) are typical imaging findings described in the literature and reviewed in this article. The differential diagnosis of MPS is limited because the constellation of imaging findings is highly suggestive. Thus, radiologists should be aware of its typical neuroimaging findings so they can recognize cases not yet diagnosed, exclude other metabolic diseases, monitor CNS findings over time, and assess treatment response. (©)RSNA, 2016.

Rhombencephalitis: pictorial essay

The term rhombencephalitis refers to inflammatory diseases affecting the hindbrain (brainstem and cerebellum). Rhombencephalitis has a wide variety of etiologies, including infections, autoimmune diseases, and paraneoplastic syndromes. Infection with bacteria of the genus Listeria is the most common cause of rhombencephalitis. Primary rhombencephalitis caused by infection with Listeria spp. occurs in healthy young adults. It usually has a biphasic time course with a flu-like syndrome, followed by brainstem dysfunction; 75% of patients have cerebrospinal fluid pleocytosis, and nearly 100% have an abnormal brain magnetic resonance imaging scan. However, other possible causes of rhombencephalitis must be borne in mind. In addition to the clinical aspects, the patterns seen in magnetic resonance imaging can be helpful in defining the possible cause. Some of the reported causes of rhombencephalitis are potentially severe and life threatening; therefore, an accurate initial diagnostic approach is important to establishing a proper early treatment regimen. This pictorial essay reviews the various causes of rhombencephalitis and the corresponding magnetic resonance imaging findings, by describing illustrative confirmed cases.

Prevalência de alterações uterinas e tubárias na histerossalpingografia em mulheres inférteis: estudo de 48 casos

Hysterosalpingography is a technique used for the evaluation of the uterine anatomy and tubal patency and consequently it is primarily indicated for the diagnosis of infertility. The aim of this study was to establish the prevalence of the abnormalities observed on the hysterosalpingograms of infertile patients. All patients that underwent hysterosalpingographic evaluation in a period of four months were allocated. Of the 48 patients studied, 36 presented primary infertility and 12 presented secondary infertility. The patients with primary infertility presented a higher rate of uterine malformations whereas the patients with secondary infertility presented more often tubal obstruction. There were no significant complications during the hysterosalpingograms. This study demonstrates that hysterosalpingography is very useful for the evaluation of infertility, as it frequently diagnoses relevant abnormalities, it is an inexpensive technique and the complications are very rare.

The molar tooth sign and the bat wing appearance in Joubert syndrome

A 10-year-old female patient was brought to the outpatient clinic with a history of neurodevelopmental delay, gait and limb incoordination, and oculomotor apraxia. According to her parents, the girl had always showed delayed acquisition of motor milestones when compared to other children, which became more evident when she was 8 months old and was not able to sit. She was able to sit by age of 2, and walked independently, but unsteady, when she was 3.5 years old. She presented with cognitive impairment. Reviewing her history, it became clear that she was hypotonic at birth and subsequently developed gait ataxia in early childhood. She was born to nonconsanguineous parents and there were no other similar cases in her family. On physical examination, she held her head preferentially in a lateralized position to her right side. She showed gait ataxia in tandem walking, abnormal stance with a positive Romberg’s sign, dysmetria, dysdiadochokinesia, diffuse hyperreflexia, bilateral Babinski sign, and oculomotor apraxia. The Wechsler Intelligence Scale for Children-III (WISC-III) demonstrated an IQ of 67 (intellectual disability). There were no other abnormalities on physical examination. Electroencephalogram showed focal paroxysmal discharges of moderate intensity in the posterior parietal-temporal region. Brain magnetic resonance imaging (MRI) demonstrated agenesis of the cerebellar vermis with a slit in the medial line sparing the two cerebellar hemispheres (Figure 1), lengthening and thickening of the cerebellar peduncles, associated with reduction of the anteroposterior diameter of the mesencephalon, the so-called “molar tooth sign” (MTS) (Figure 2). Morphological alterations in the posterior fossa showed a 4th ventricle with a typical “bat wing” appearance (Figure 3). These findings were highly suggestive of Joubert syndrome (JS).