A Rare Case of Global Developmental Delay with Ataxia Joubert Syndrome

2016 ◽  
Vol 4 (2) ◽  
Author(s):  
Nagesh Dasarwar ◽  
Sravya Datla
Keyword(s):  
Developmental Delay ◽  
Rare Case ◽  
Joubert Syndrome ◽  
Global Developmental Delay

scholarly journals The Syndrome of Infantile-Onset Saccade Initiation Delay

2013 ◽  
Vol 40 (2) ◽  
pp. 235-240 ◽  
Author(s):  
Michael S. Salman ◽  
Kristin M. Ikeda
Keyword(s):  
Developmental Delay ◽  
Medical Literature ◽  
Joubert Syndrome ◽  
Global Developmental Delay ◽  
Optokinetic Response ◽  
Motor Delay ◽  
Ocular Pursuit ◽  
English Medical Literature ◽  
Vestibulo Ocular Reflex ◽  
Motor Apraxia

Introduction:Infantile-onset saccade initiation delay (ISID), also known as congenital ocular motor apraxia, is characterized by the inability to initiate volitional horizontal saccades. Other abnormalities including developmental delay and ataxia have been reported. The frequency of these abnormalities is unknown. We performed a detailed review of the medical literature to quantify features of ISID.Methods:We searched the English medical literature for articles related to ISID from 1952 to 2010. Whenever possible, patients were excluded if they had acquired SID, Joubert syndrome or neurodegenerative conditions. The minimum prevalence was calculated for each abnormality.Results:Sixty-six articles with information on 288 patients were included in the analysis. Head thrusts were reported in 84.7%. Blinks without head thrusts were used to initiate saccades in 41%. The fast phases of the optokinetic response and vestibulo-ocular reflex were impaired in 69.8% and 34.4% respectively. Smooth ocular pursuit was abnormal in 33%. Global developmental delay occurred in 41.3%, speech or language delay in 36.5%, cognitive delay in 17%, hypotonia in 35.8%, motor delay in 48.6%, and ataxia/clumsiness in 49.3% of patients. Neuroimaging was performed on 197 patients and was normal in 39.1%. Abnormalities involved the cerebellum (24.9%), cerebrum (15.7%), other infratentorial structures (11.7%), and corpus callosum (6.1%).Conclusions:Infantile-onset saccade initiation delay is frequently associated with deficits in reflexive saccades and less frequently with impaired smooth ocular pursuit. Developmental delay, hypotonia, and ataxia occur frequently in ISID, suggesting more global brain impairment and not just a saccadic disorder.

scholarly journals A rare case of neuro regression in an Indian child: beyond the realm of nervous system

2020 ◽  
Vol 8 (1) ◽  
pp. 165
Author(s):  
Preeti Srivastava ◽  
Sarala Sunder ◽  
Nilanjan Sarkar
Keyword(s):  
Nervous System ◽  
Developmental Delay ◽  
Rare Case ◽  
Neurodegenerative Disorder ◽  
Detailed Examination ◽  
Indian Child ◽  
Global Developmental Delay ◽  
Imaging Findings ◽  
First Impression ◽  
New Onset

When we encounter a child with dysmorphism and developmental delay or regression, we are prompted to think on lines of a disorder of nervous system. However, at times a disorder primarily involving another system, more importantly, a modifiable condition, could be responsible for same phenotypic presentation. A 6 years old male child with global developmental delay, dysmorphism, seizures and new onset regression appeared to be suffering from some neurodegenerative disorder on first impression. As detailed examination, lab investigations and imaging findings were noted, a rare endocrinal disorder was unravelled and a diagnosis of pseudohypoparathyroidism (PHP) type 1A was made and was genetically confirmed.

Complications and Sequelae in Patients With Congenital Microcephaly Associated With Zika Virus Infection: Two-Year Follow-Up

2021 ◽  
pp. 088307382098316
Author(s):  
Luane A. Gouvea ◽  
Marlos Martins ◽  
Daniela Vivacqua ◽  
Julia Rosseto ◽  
Giulia Lima ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Zika Virus ◽  
Median Number ◽  
Global Developmental Delay ◽  
Spastic Diplegia ◽  
Long Term Follow Up ◽  
Congenital Microcephaly ◽  
Auditory Impairment ◽  
Worse Prognosis

Background: We aim to describe the long term follow-up of a cohort of children exposed in utero to the Zika virus. Methods: Descriptive study of a cohort of microcephalic children due to Zika virus. Logistic regression was used to evaluate variables associated with worse prognosis epilepsy. Results: We followed 28 children (15 females), with a median follow-up of 24 months (IQR = 12-28). During the follow-up, 1 infant died. The median head circumference at birth was 29 cm (IQR = 27-31). All presented a global developmental delay. The most frequent central nervous system abnormalities were on cortical development in 22 participants; dysgenesis of corpus callosum in 13; ventriculomegaly in 25; and calcifications in 24. A total of 9 presented ocular abnormalities, 4 auditory impairment. During follow-up, 12 presented with sleep disorders, 10 with irritability, and 23 with epilepsy (2 with generalized tonic-clonic, 3 with generalized tonic-clonic and spasms, 12 with spasms, 3 tonic and spasms, and 3 motor focal and spasms). The median age at the begin of the epilepsy was 4 months (IQR = 2-10), the median number of drugs used to control the epilepsy was 2 (IQR = 2-3). Maternal illicit drug use during pregnancy was associated with worse prognosis epilepsy (Lennox-Gastaut syndrome, West syndrome, or status epilepticus). A total of 19 presented with dysphagia, 10 children required gastrostomy. Conclusion: Children with microcephaly due to Zika virus presented with several complications during follow-up, as epilepsy, spastic diplegia, and global developmental delay.

scholarly journals Genetic Evaluation of Children with Global Developmental Delay—Current Status of Network Systems in Taiwan

2015 ◽  
Vol 56 (4) ◽  
pp. 213-219
Author(s):  
Yong-Lin Foo ◽  
Julie Chi Chow ◽  
Ming-Chi Lai ◽  
Wen-Hui Tsai ◽  
Li-Chen Tung ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Genetic Evaluation ◽  
Current Status ◽  
Global Developmental Delay ◽  
Network Systems

Global Developmental Delay in a 10-Month-Old Infant Boy

2009 ◽  
Vol 30 (1) ◽  
pp. 72-74 ◽  
Author(s):  
Nathan J. Blum ◽  
Lynne M. Bird ◽  
Martin T. Stein
Keyword(s):  
Developmental Delay ◽  
Global Developmental Delay
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