Clinical and neuroimaging features as diagnostic guides in neonatal neurology diseases with cerebellar involvement

Klein, Jessica; Lemmon, Monica E.; Northington, Frances J.; Boltshauser, Eugen; Huisman, Thierry A. G. M.; Poretti, Andrea

doi:10.1186/s40673-016-0039-1

Cited by 27 publications

(14 citation statements)

References 87 publications

(129 reference statements)

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“…Cerebellar hypoplasia has also been reported in CT scans from infants with CZS, with an incidence ranging 50%-75% [7,12,22], similar to the 52% found in our study. This abnormality has also been reported with congenital cytomegalovirus infection occurring in early gestation [23].…”

Section: Discussionmentioning

confidence: 82%

Lessons Learned at the Epicenter of Brazil’s Congenital Zika Epidemic: Evidence From 87 Confirmed Cases

Meneses

Ishigami

Mello

et al. 2017

Clinical Infectious Diseases

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Congenital Zika virus infection has stimulated great international concern. A prospective case series of 87 infants with laboratory-confirmed congenital Zika syndrome (CZS) at the epicenter of the Brazilian Zika epidemic in Pernambuco state is presented. Mothers were interviewed for symptoms of possible Zika virus (ZIKV) infection during pregnancy, and fetal ultrasounds were obtained. Infant cerebrospinal fluid (CSF) samples were tested for ZIKV-specific antibodies, and sera were screened for other congenital infections. Neuroimaging and ophthalmologic evaluations were also performed. Sixty-six mothers (76%) reported symptoms of ZIKV infection during gestation. Fetal ultrasounds were available from 90% of the mothers, and all demonstrated brain structural abnormalities. All of the CSF samples tested positive for ZIKV immunoglobulin M. The majority of infants (89%) were term; the mean birth weight was 2577 ± 260 g, and the mean head circumference was 28.1 ± 1.8 cm. Severe microcephaly, defined as head circumference 3 SD below the mean for sex and gestational age, was found in 72 (82%) infants. All infants had an abnormal neurological exam, and 18 (20.7%) had arthrogryposis. The main abnormalities detected in computed tomography scans were calcifications (99%), followed by ventricular enlargement (94%), cortical hypogyration (81%), and less commonly, cerebellar hypoplasia (52%). Unilateral diaphragm paralysis was identified in 3 infants. Maternal young age, term infant, small for gestational age, and the presence of ophthalmologic abnormalities were significantly associated with a smaller head circumference Z score. Our findings, based on laboratory-confirmed ZIKV infection, add valuable evidence for the understanding of CZS.

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Section: Discussionmentioning

confidence: 82%

Lessons Learned at the Epicenter of Brazil’s Congenital Zika Epidemic: Evidence From 87 Confirmed Cases

Meneses

Ishigami

Mello

et al. 2017

Clinical Infectious Diseases

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“…The fastigial nucleus is phylogenetically the oldest in the cerebellum. It forms crucial connections with motor and non-motor systems, thus being implicated in various emotional activities and contributing to a coordinated response to internal and external stimuli [ 78 ]. The fastigial glutamatergic projection neurons can modulate the cortical circuits by crossing midline and synapsing with the midbrain and thalamus [ 79 ].…”

Section: Mediodorsal Thalamic Relationship With the Cerebellummentioning

confidence: 99%

The Anatomical and Functional Heterogeneity of the Mediodorsal Thalamus

2020

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The mediodorsal nucleus (MD) represents just one piece of a complex relay structure situated within the brain, called the thalamus. MD is characterized by its robust interconnections with other brain areas, especially with limbic-related structures. Given the close anatomo-functional relationship between the MD and the limbic system, this particular thalamic nucleus can directly influence various affective behaviors and participate in cognition. In this work, we review data collected from multiple anatomical studies conducted in rodent, human, and non-human primates, highlighting the complexity of this structure and of the neural networks in which it takes part. We provide proof that the MD is involved in the unification of several anatomical structures, being able to process the information and influence the activity in numerous cortical and subcortical neural circuits. Moreover, we uncover intrinsic and extrinsic mechanisms that offer MD the possibility to execute and control specific high functions of the nervous system. The collected data indicate the great importance of the MD in the limbic system and offer relevant insight into the organization of thalamic circuits that support MD functions.

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“…In JS, the diagnosis is vital since it is recessive and it has a recurrence risk of 25% [ 3 ]. Radiological evidence of marked cerebellar vermis abnormalities is of great importance in establishing the diagnosis of this disease [ 41 ]. In literature, studies have shown that children with JS were referred to medical center due to especially developmental delay and respiratory disorders [ 10 , 40 , 42 ].…”

Section: Discussionmentioning

confidence: 99%

Physiotherapy and Rehabilitation in a Child with Joubert Syndrome

İpek

Akyolcu

Bayar

2017

Case Reports in Pediatrics

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Objective Joubert syndrome (JS) is a rare autosomal recessive genetic disorder characterized by brain malformation, hypotonia, breathing abnormalities, ataxia, oculomotor apraxia, and developmental delay. The purpose of this study was to report the efficiency of the physiotherapy and rehabilitation program in a child with JS. Materials and Methods Our case is a 19-month-old female child with mild clinical signs of JS. The pretreatment and posttreatment motor functioning level of the case was evaluated through the Gross Motor Function Measure (GMFM), whereas the independence level was evaluated through the Pediatric Functional Independence Measure (WeeFIM). The case was included in the rehabilitation program by the physiotherapist for one hour for five days a week throughout the period of 13 months in accordance with the neurodevelopmental treatment principles. Results The case was able to turn around from the supine position to the reverse direction by oneself, and she was able to rise on her forearms facedown and was able to sit, crawl, and walk independently. The GMFM score was 210, whereas WeeFIM score was 65. Discussion In the direction of those findings, in Joubert Syndrome, physiotherapy and rehabilitation can be effective in coping with the symptoms causing developmental delay.

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Clinical and neuroimaging features as diagnostic guides in neonatal neurology diseases with cerebellar involvement

Cited by 27 publications

References 87 publications

Lessons Learned at the Epicenter of Brazil’s Congenital Zika Epidemic: Evidence From 87 Confirmed Cases

Lessons Learned at the Epicenter of Brazil’s Congenital Zika Epidemic: Evidence From 87 Confirmed Cases

The Anatomical and Functional Heterogeneity of the Mediodorsal Thalamus

Physiotherapy and Rehabilitation in a Child with Joubert Syndrome

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