Interhypothalamic adhesion and multiple cerebral abnormalities in a 2-year-old boy.

International audienceInterhypothalamic adhesion (IHA) is a band of tissue spanning the anterior recess of the third ventricle, linear in the transverse and frontal planes. Recently described, in 2008 [1] in a patient with a Chiari type II malformation, IHA is commonly associated with multiple congenital anomalies [2] particularly midline disorders but can also be isolated. IHA is related with hypothalamo-pituitary dysfunctions and seizures in most of patient, but asymptomatic patients have been reported [3]. Here, we present a case of IHA associated with corpus callosum agenesis (CCA)

AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?

OBJECTIVE: To describe the clinico-radiological phenotype of 3 patients harboring a homozygous novel AP4M1 pathogenic mutation. METHODS: The 3 patients from an inbred family who exhibited early-onset developmental delay, tetraparesis, juvenile motor function deterioration, and intellectual deficiency were investigated by magnetic brain imaging using T1-weighted, T2-weighted, T2*-weighted, fluid-attenuated inversion recovery, susceptibility weighted imaging (SWI) sequences. Whole-exome sequencing was performed on the 3 patients. RESULTS: In the 3 patients, brain imaging identified the same pattern of bilateral SWI hyposignal of the globus pallidus, concordant with iron accumulation. A novel homozygous nonsense mutation was identified in AP4M1, segregating with the disease and leading to truncation of half of the adap domain of the protein. CONCLUSIONS: Our results suggest that AP4M1 represents a new candidate gene that should be considered in the neurodegeneration with brain iron accumulation (NBIA) spectrum of disorders and highlight the intersections between hereditary spastic paraplegia and NBIA clinical presentations

Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease

International audienceWe investigated the genetic, phenotypic, and interferon status of 46 patients from 37 families with neurological disease due to mutations in ADAR1. The clinicoradiological phenotype encompassed a spectrum of Aicardi–Goutières syndrome, isolated bilateral striatal necrosis, spastic paraparesis with normal neuroimaging, a progressive spastic dystonic motor disorder, and adult-onset psychological difficulties with intracranial calcification. Homozygous missense mutations were recorded in five families. We observed a p.Pro193Ala variant in the heterozygous state in 22 of 23 families with compound heterozygous mutations. We also ascertained 11 cases from nine families with a p.Gly1007Arg dominant-negative mutation, which occurred de novo in four patients, and was inherited in three families in association with marked phenotypic variability. In 50 of 52 samples from 34 patients, we identified a marked upregulation of type I interferon-stimulated gene transcripts in peripheral blood, with a median interferon score of 16.99 (interquartile range [IQR]: 10.64–25.71) compared with controls (median: 0.93, IQR: 0.57–1.30). Thus, mutations in ADAR1 are associated with a variety of clinically distinct neurological phenotypes presenting from early infancy to adulthood, inherited either as an autosomal recessive or dominant trait. Testing for an interferon signature in blood represents a useful biomarker in this context

Reversible growth failure and complete GH deficiency in a 4-year-old girl with very early Hashimoto’s thyroiditis and subsequent hyperplasia of pituitary thyrotroph cells

International audienceHashimoto's thyroiditis is a well-known cause of growth retardation in adolescence. It is less frequently seen in children and rarely seen in infants. A 4-year-old girl was referred to our clinic for a second opinion before starting growth hormone (GH) treatment. Linear growth had markedly declined in the past 2 years, with height -3.4 standard deviations. GH deficiency was complete. She had dry, gray-sallow skin and bloated abdomen, but no goiter. The parents reported fatigue and constipation. Hormonal evaluation revealed TSH 629.5 mIU/ml, free T4 0.08 ng/dl, and prolactin 17.2 ng/ml. Bone age was 2 years. Antibodies to thyroglobulin and thyroid peroxidase were positive, suggesting Hashimoto's thyroiditis. Brain magnetic resonance imaging showed anterior pituitary hyperplasia. After 3 years of L-thyroxine therapy, she was symptomless, her height was -0.6 standard deviations, and the TSH level was normal. Brain magnetic resonance imaging showed regression of the pituitary hyperplasia

Role of neuroimaging in the diagnosis of hereditary cerebellar ataxias in childhood

International audienceHereditary ataxias are a heterogeneous group of neurodegenerative disorders, characterized by cerebellar ataxia as the main clinical feature, and a large spectrum of neurological-associated symptoms and possible multi-organ affection. Image-based approaches to hereditary ataxias in childhood have already been proposed. The aim of this review is to yield the main reports of neuroimaging patterns and diagnostic algorithms and compare them with the results from our study of 23 young patients addressed for ataxia, with subsequent genetic or metabolic diagnosis

Neonatal respiratory distress syndrome revealing a cervical bronchogenic cyst: a case report

International audienceBACKGROUND:Bronchogenic cyst is a congenital malformation, rarely located in the cervical region and almost never involved in a neonate with acute respiratory distress in the delivery room.CASE PRESENTATION:A female newborn with respiratory distress syndrome caused by a large left cervical mass. Intubation was difficult due to tracheal deviation. Magnetic resonance imaging confirmed a left cervical cyst displacing the trachea and esophagus laterally. Surgical excision was performed via a cervical approach on the 5th day, and pathological examination revealed a bronchogenic cyst. The patient's course was complicated by left vocal cord paralysis and necrotic lesions in the glottic and subglottic regions; she required a tracheostomy on the 13th day. Inflammatory stenosis in the subglottic region required balloon dilation once, 20 days later. Proximal esophageal stenosis induced transient upper airway obstruction with salivary stasis. Decannulation was performed at 2 months and the patient was discharged 10 days later.CONCLUSION:A bronchogenic cyst can exceptionally obstruct the airways in the neonatal period. Surgical excision is necessary, but postoperative complications may occur if the cyst is in close contact with the trachea and esophagus, including necrotic and stenotic lesions of the upper aerodigestive tract. In those situations, tracheostomy may be necessary for mechanical ventilation weaning and the initiation of oral feeding

Monocentric retrospective clinical outcome in a group of 13 patients with opsoclonus myoclonus syndrome, proposal of diagnostic algorithm and review of the literature

International audienceBackground: Dancing eye syndrome or opsoclonus-myoclonus syndrome (OMS) is a very rare disease (incidence 1 year at onset may correlate with a higher risk of aftermaths. We detected a better prognosis in the post-infectious OMS, with full recovery occurring in 2/3 of patients.Conclusions: Early clinical suspicion is key to guarantee maximum response of treatment

Complications and follow up of subarachnoid hemorrhages

International audienceComplications of subarachnoid hemorrhage are the major life threatening and functional components of the follow up of a ruptured aneurysm. Knowing how to identify these is a key challenge. They vary in type throughout the postoperative follow up period. The aim of this article is firstly to list the main complications of the acute phase (rebleeding, acute hydrocephalus, acute ischemic injury and non-neurological complications), the subacute phase (vasospasm) and the chronic phase of subarachnoid hemorrhages: (chronic hydrocephalus and cognitive disorders) and to describe their major clinical and radiological features. Secondly, we describe the long-term follow up strategy for patients who have suffered a subarachnoid hemorrhage and have been treated endovascularly or by surgery. This follow up involves a combination of clinical consultations, cerebral MRI and at least one review angiogram

Phase Contrast MRI Suggests an Internal Carotid Vascular Tone Alteration in Migraines

International audience Migraine is the most common neurological disorder and the third most common disease worldwide. However, the underlying mechanisms contributing to its development are not completely understood. Symptoms may arise from a combination of dilation-independent vascular events and neurogenic mechanisms interacting throughout the brain and within the trigeminovascular system in the meninges MATERIALS AND METHOD: We report here a case of a patient with a suspected familial hemiplegic migraine who presented an increased recurrence of events from one per month to one every other day. Three magnetic resonance imaging (MRI) acquisitions were performed after the appearance of a strong crisis which included a paresthesia and aphasia along with headaches. Two MRIs were performed close to the crisis, while the last one was done 1 month later

Imaging of the optic chiasm and retrochiasmal visual pathways

International audienceThe exploration of the chiasmal and retrochiasmal visual pathways is based on magnetic resonance imaging. A bitemporal hemianopsis suggests a lesion of the optic chiasm while homonymous lateral hemianopsis should lead to a search for a lesion of the retrochiasmal visual pathways. The causes of chiasmal impairment are mainly tumoral. The exploration protocol is based on MRI with T1-weighted sagittal sections, then T2- and T1-weighted coronal sections with and without injection. In case of a retrochiasmal syndrome, the MRI exploration protocol is a function of the type of occurrence of the deficiency and the context