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.

Stable Neurocutaneous Melanosis in a Ten-Year-Old Boy with Controlled Partial-Complex Seizures

2012 ◽  
Vol 25 (2) ◽  
pp. 206-211
Author(s):  
A.H. El Beltagi ◽  
H. Fahmy ◽  
N. Nasef ◽  
A. Norbash ◽  
D. Abdalla
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Medical Treatment ◽  
Developmental Delay ◽  
Imaging Findings ◽  
Neurocutaneous Melanosis ◽  
Melanocytic Nevi ◽  
Trunk Region

Neurocutaneous melanosis (NCM) is a rare neuroectodermal dysplasia that includes both central nervous system (CNS) and integumentary melanocytic abnormalities. NCM can present with varied clinical and imaging findings, classically presenting with large melanocytic nevi involving the posterior axial trunk region. We describe a case with predominant small non-scalp and non posterior axial-trunk nevi, which nevertheless demonstrated typical CNS imaging findings. Our case clinically presented with epilepsy that was controlled by medical treatment. The patient also demonstrated motor developmental delay, and an otherwise stable course.

Deletion 18p11.32p11.31 in a Child with Global Developmental Delay and Atypical, Drug-Resistant Absence Seizures

2015 ◽  
Vol 146 (2) ◽  
pp. 115-119 ◽  
Author(s):  
Alberto Verrotti ◽  
Chiara Palka ◽  
Giovanni Prezioso ◽  
Melissa Alfonsi ◽  
Giuseppe Calabrese ◽  
...  
Keyword(s):  
Nervous System ◽  
Developmental Delay ◽  
Signs And Symptoms ◽  
Absence Epilepsy ◽  
Global Developmental Delay ◽  
Incomplete Penetrance ◽  
Drug Resistant ◽  
Mild Phenotype ◽  
First Case ◽  
Atypical Absence

We report the first case of an 18p11.32 deletion, detected by array CGH, associated with a drug-resistant form of atypical absence epilepsy, global developmental delay and no signs of holoprosencephaly (HPE). In particular, this region encompasses 19 genes, and none of these genes have been strictly associated with epilepsy. Among these, TGIF1 is expressed in the fetal and adult nervous system, and its deletion has been related to central nervous system diseases. TGIF1 deletions have previously been reported in patients with a comparable phenotype as seen in our case and in children whose neurological signs and symptoms were considerable, but not epileptiform. Mutations and deletions involving the TGIF1 gene have been described in patients with HPE in an autosomal dominant model of inheritance. However, TGIF1 mutations have also been reported in normal individuals and in patients with mental retardation or showing a very mild phenotype, suggesting the characteristic of incomplete penetrance and variable expressivity. Therefore, a TGIF1 deletion may not be always related to HPE, and it may have a link to the development of epilepsy.

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 Report of a Rare Case of Trauma-Induced Thyroid Storm

2002 ◽  
Vol 81 (8) ◽  
pp. 570-574 ◽  
Author(s):  
Neil M. Vora ◽  
Fred Fedok ◽  
Brendan C. Stack
Keyword(s):  
Nervous System ◽  
Rare Case ◽  
Hepatic Dysfunction ◽  
Motor Vehicle ◽  
Motor Vehicle Accident ◽  
Definitive Treatment ◽  
Thyroid Storm ◽  
Vehicle Accident ◽  
Hyperthyroid State ◽  
Life Threatening

Thyroid storm is a potentially life-threatening endocrinologic emergency characterized by an exacerbation of a hyperthyroid state. Several inciting factors can instigate the conversion of thyrotoxicosis to thyroid storm; trauma is one such trigger, but it is rare. Patients with thyroid storm can manifest fever, nervous system disorders, gastrointestinal or hepatic dysfunction (e.g., nausea, vomiting, diarrhea, and/or jaundice), and arrhythmia and other cardiovascular abnormalities. Treatment of thyroid storm is multimodal and is best managed by the endocrinologist and medical intensivist. Initial medical and supportive therapies are directed at stabilizing the patient, correcting the hyperthyroid state, managing the systemic decompensation, and treating the underlying cause. Once this has been achieved, definitive treatment in the form of radioactive ablation or surgery should be undertaken. We describe a case of thyroid storm in a young man that was precipitated by a motor vehicle accident.

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