Basal ganglia calcification and neonate

Mineralizing lenticulostriate vasculopathy is a well-recognized risk factor for basal ganglia stroke after minor head trauma in infants and young children; it is diagnosed on head computed tomography by the presence of basal ganglia calcification, seen as punctate hyperdensities on axial and linear hyperdensities on reconstructed coronal and sagittal images. In children with anterior fontanel window, its presence is suggested by branching hyperechogenic stripes in the basal ganglia region on cranial ultrasound...

OBJECTIVES: Amyoplasia congenita is the most frequent type of arthrogryposis causing fetal hypokinesia, leading to congenital contractures at birth. The pathogenesis is thought to be impaired blood circulation to the fetus early in pregnancy, with hypotension and hypoxia damaging the anterior horn cells. In animal studies however a prenatal infection with a poliomyelitis-like viral agent was demonstrated. Congenital Zika virus syndrome (CZVS) has recently been described in infants with severe microcephaly, and in 10-25% of cases arthrogryposis...

Sterile α motif domain-containing protein 9-like (SAMD9L) is encoded by a hallmark interferon-induced gene with a role in controlling virus replication that is not well understood. Here, we analyze SAMD9L function from the perspective of human mutations causing neonatal-onset severe autoinflammatory disease. Whole-genome sequencing of two children with leukocytoclastic panniculitis, basal ganglia calcifications, raised blood inflammatory markers, neutrophilia, anemia, thrombocytopaenia, and almost no B cells revealed heterozygous de novo SAMD9L mutations, p...

INTRODUCTION: Aicardi-Goutières syndrome (AGS) is a genetic disease presenting with early-onset encephalopathy, generalized dystonia, spasticity, and cognitive disability. Diagnosis may be difficult in adults, as the clinical course seems static from infancy. METHODS: AGS patients from an adult movement disorders outpatient clinic were retrospectively analyzed. RESULTS: A total of 5 patients and 1 asymptomatic carrier from 3 different families were identified...

Introduction : Leukodystrophies constitute heterogenous group of rare heritable disorders primarily affecting the white matter of central nervous system. These conditions are often under-appreciated among physicians. The first clinical manifestations of leukodystrophies are often nonspecific and can occur in different ages from neonatal to late adulthood periods. The diagnosis is, therefore, challenging in most cases. Area covered : Herein, the authors discuss different aspects of leukodystrophies. The authors used MEDLINE, EMBASE, and GOOGLE SCHOLAR to provide an extensive update about epidemiology, classifications, pathology, clinical findings, diagnostic tools, and treatments of leukodystrophies...

Aicardi-Goutières syndrome (AGS) is a rare syndrome characterized by calcification, diffuse demyelination, and variable degree of brain atrophy. The syndrome is genetically heterogeneous with mutations in 7 genes, including TREX1 , RNASEH2A , RNASEH2B , RNASEH2C , SAMHD1 , ADAR1 , and IFIH1 (interferon-induced helicase c domain-containing protein 1) associated with the syndrome, so far. These mutations lead to the overproduction of α-interferon within the central nervous system. Mutations in IFIH1 have been recently described in a subset of AGS, with only 1 previous report of neuropathological findings...

Prenatal, neonatal meningoencephalitis and infections of the brain in older infants are often associated with serious complications which can be diagnosed by sonography through the open fontanelles. Most frequently postmeningitic hydrocephalus and subdural effusions occur. Rarer complications are brain abscesses and ventriculitis which are caused by gram negative bacteria such as E. coli, Serratia marcescens, Proteus and Enterobacter. A serious complication after ventriculitis is the development of compartment hydrocephalus...

OBJECTIVE: The new epidemic of Zika virus infection raises grave concerns, especially with the increasingly-recognized link between emerging cases of microcephaly and this infectious disease. Besides small cranial dimensions, there are striking morphologic anomalies in the fetal brain. Key anomalies include cortical developmental malformations and a peculiar distribution of pathologic calcifications. These potentially indicate a new pattern of congenital central nervous system infection...

CONTEXT: -The 2015 outbreak of Zika virus in Brazil resulted in a 20-times increased prevalence of congenital microcephaly in stillborns and neonates and was instrumental in raising the suspicion of a causal association between Zika virus and microcephaly. OBJECTIVE: -To provide a comprehensive description of the neuropathologic features of congenital Zika virus infection. DESIGN: -Autopsy evaluation of the brain from a fetus of 32 weeks and 6 days of gestation, with a prenatal diagnosis of microcephaly associated with polymerase chain reaction-confirmed, fetal, Zika virus infection...

PURPOSE: The aim of this study is to describe some radiological features in the newborns with microcephaly caused by Zika virus infection during pregnancy. METHODS: We radiologically analyzed 13 cases of newborns with microcephaly born to mothers who were infected by the Zika virus in the early stage of pregnancy. RESULTS: The most frequently observed radiological findings were microcephaly and decreased brain parenchymal volume associated with lissencephaly, ventriculomegaly secondary to the lack of brain tissue (not hypertensive), and coarse and anarchic calcifications mainly involving the subcortical cortical transition, and the basal ganglia...

Clinical features (progressive psychomotor retardation, seizures, movement disorders and motor signs in both central and peripheral systems, sensorineural defects, and psychiatric symptoms) and brain imaging are the keys to diagnosis. CT is indicated for the detection of calcifications and blood, and for angiography. MRI in all three axes requires T1, T2, FLAIR (from 1 year on), eventually T2* or contrast administration, and diffusion in any acute condition. MR spectroscopy allows the dectection of lactate and creatine deficiency, elevated choline in high membrane turnover, and low NAA in neuronal death...

Congenital microcephaly with intracranial calcification is a rare condition presented in heterogeneous diseases. Here, we report the case of a 1-year-old boy with severe congenital microcephaly and diffuse calcification. Neuroimaging studies showed a diffuse simplified gyral pattern; a very thin cortex; ventricular dilatation; very small basal ganglia, thalamus, and brainstem; and cerebellar hypoplasia with diffuse calcification. Clinical features of intrauterine infections, such as neonatal jaundice, hepatomegaly, and thrombocytopenia, were not found...

BACKGROUND: Hypoxia-ischemia (HI) in the neonatal brain results in a prolonged injury process. Longitudinal studies using noninvasive methods can help elucidate the mechanisms behind this process. We have recently demonstrated that manganese-enhanced magnetic resonance imaging (MRI) can depict areas with activated microglia and astrogliosis 7 days after hypoxic-ischemic brain injury. OBJECTIVE: The current study aimed to follow brain injury after HI in rats longitudinally and compare manganese enhancement of brain areas to the development of injury and presence of reactive astrocytes and microglia...

Neonatal lupus erythematosus (NLE) is characterized by the transplacental passage of maternal anti-Ro and/or anti-La antibodies and characteristic illnesses in the foetus/neonate. Most attention has focused on the most serious complication- cardiac involvement. This article will focus on non-cardiac involvement. Skin involvement (cutaneous NLE) is present in 15-25% of children with NLE. The rash of NLE tends to be photosensitive but may be present at birth or in non-sun exposed areas. It is most frequently seen around the eyes, not in the malar area, but also occurs in other parts of the body...

BACKGROUND: Several progeroid disorders presenting a specific "old-man" appearance since birth or childhood have been described. Here, five patients with a history of severe intrauterine and postnatal growth retardation and pseudohydrocephaloid cranium noted after birth that were suggestive of neonatal progeroid syndrome (NPS) or Wiedemann-Rautenstrauch syndrome are reported. We discuss the natural course of the syndrome. METHODS: A series of anthropometric measurements, imaging, dual energy X-ray absorptiometry, and endocrine investigations to assess metabolic complications such as hyperinsulinemia and dyslipidemia were performed on these five patients who were followed for 1-7 years...

OVERVIEW: In newborns with symptomatic congenital cytomegalovirus (CMV) infection, neuroimaging is the best available predictor of neurodevelopmental outcome. Cerebrospinal fluid (CSF) findings in congenital CMV infection have seldom been described. Neonates with central nervous system infections present high CSF Beta(2)-microglobulin (beta(2)-m) levels. OBJECTIVES: The objectives of this study were: (1) to determine whether CSF beta(2)-m is increased in newborns with symptomatic congenital CMV infection, and (2) to examine its correlation with neuroimaging findings...

A newborn male was diagnosed with congenital rubella syndrome. His 31-year-old mother had had erythematous exanthema during a period of amenorrhea lasting 7 weeks; she was not vaccinated and had never had a rubella infection. The infection was confirmed serologically. The mother gave birth to an icteric, microcephalic, dysmature neonate with hepatosplenomegaly and exanthema with multiple, small purple-red spots. Ultrasound cardiography revealed a persistently open arterial duct and a small defect of the ventricular septum...

A one-year-boy presented with constipation, fever, failure to thrive and developmental delay from the neonatal period. Investigations revealed persistent hypernatremia and deranged renal functions. Diagnostic work-up was suggestive of nephrogenic diabetes insipidus (NDI). Computerized tomography of head revealed calcification in the frontal, thalamic and basal ganglia region. The rare association of NDI and intracranial calcification is discussed.

Computerized tomography (CT) of the brain was performed in 10 of 11 consecutive infants with neonatal lupus erythematosus (NLE) (five boys and six girls). Ten of the 11 infants had brain neurosonography. Nine of 10 infants had abnormal CT scans. There was diffuse, markedly reduced attenuation of the cerebral white matter in four infants studied in the first week of life, and also in an infant 5 weeks of age. Patchy reduced subcortical white matter attenuation was observed in another 5-week-old infant. Basal ganglia calcifications were present in two infants at 2 months of age, one of whom also had mild ventriculomegaly...

Children who develop clinical hypothyroidism in early childhood have various degrees of irreversible brain damage, albeit less severe than cases detected by neonatal screening test for hypothyroidism in the first months of the life. We report three patients with hypothyroidism of childhood onset after a normal neonatal thyroid-stimulating hormone screening who showed deceleration in linear growth, spasticity in the lower limbs with deformity, mild intellectual impairment, and multiple calcifications in the basal ganglia and subcortical areas...