Further evidence of muscle involvement in neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy

2021 ◽  
Author(s):  
Purvi Majethia ◽  
Michelle C. Do Rosario ◽  
Parneet Kaur ◽  
Karanvir ◽  
Raagul Shankar ◽  
...  
Keyword(s):  
Brain Atrophy ◽  
Neurodevelopmental Disorder ◽  
Muscle Involvement

scholarly journals PRUNE Syndrome Is a New Neurodevelopmental Disorder

2018 ◽  
Vol 5 ◽  
pp. 2329048X1775223 ◽  
Author(s):  
Majid Alfadhel ◽  
Marwan Nashabat ◽  
Khalid Hundallah ◽  
Amal Al Hashem ◽  
Ahmed Alrumayyan ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Developmental Delay ◽  
Brain Atrophy ◽  
Neurodevelopmental Disorder ◽  
Brain Magnetic Resonance Imaging ◽  
Compound Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Neurodevelopmental Disease ◽  
Dysmorphic Features ◽  
Delayed Myelination

PRUNE syndrome, or neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies (OMIM#617481), is a new rare autosomal recessive neurodevelopmental disease that is caused by homozygous or compound heterozygous mutation in PRUNE1 on chromosome 1q21. Here, We report on 12-month-old and 30-month-old girls from 2 unrelated Saudi families with typical presentations of PRUNE syndrome. Both patients had severe developmental delay, progressive microcephaly, and dysmorphic features. Brain magnetic resonance imaging showed slight thinning in the corpus callosum, mild frontal brain atrophy, and delayed myelination in one of the patients. Both patients had the same missense mutation in PRUNE1 (c.383G>A, p.Arg128Gln), which was not reported before in a homozygous state. We compared our patients to previously reported cases. In conclusion, We suggest that clinicians consider PRUNE syndrome in any child presenting with dysmorphic features, developmental delay, progressive microcephaly, central hypotonia, peripheral spasticity, delayed myelination, brain atrophy, and a thin corpus callosum.

RLS May Be a Neurodevelopmental Disorder

2008 ◽  
Vol 41 (20) ◽  
pp. 17
Author(s):  
PATRICE WENDLING
Keyword(s):  
Neurodevelopmental Disorder

Reconsidering NMIHBA Core Features: Macrocephaly Is Not a So Unusual Sign in PRUNE1-Related Encephalopathy

2020 ◽  
Author(s):  
Roberta Battini ◽  
Enrico Bertini ◽  
Roberta Milone ◽  
Chiara Aiello ◽  
Rosa Pasquariello ◽  
...  
Keyword(s):  
Nervous System ◽  
Differential Diagnosis ◽  
Clinical Features ◽  
Neurodevelopmental Disorder ◽  
Recurrent Mutation ◽  
Clinical Suspicion ◽  
Alexander Disease ◽  
Brain Anomalies ◽  
Progressive Encephalopathy ◽  
Core Features

Abstract PRUNE1-related disorders manifest as severe neurodevelopmental conditions associated with neurodegeneration, implying a differential diagnosis at birth with static encephalopathies, and later with those manifesting progressive brain damage with the involvement of both the central and the peripheral nervous system.Here we report on another patient with PRUNE1 (p.Asp106Asn) recurrent mutation, whose leukodystrophy, inferior olives hyperintensity, and macrocephaly led to the misleading clinical suspicion of Alexander disease. Clinical features, together with other recent descriptions, suggest avoiding the term “microcephaly” in defining this disorder that could be renamed “neurodevelopmental disorder with progressive encephalopathy, hypotonia, and variable brain anomalies” (NPEHBA).

Response to Steroids in IQSEC2-Related Encephalopathy Presenting with Rett-Like Phenotype and Infantile Spasms

2020 ◽  
Author(s):  
Divya Nagabushana ◽  
Aparajita Chatterjee ◽  
Raghavendra Kenchaiah ◽  
Ajay Asranna ◽  
Gautham Arunachal ◽  
...  
Keyword(s):  
Late Onset ◽  
Neurodevelopmental Disorder ◽  
Epileptic Encephalopathy ◽  
Infantile Spasms ◽  
The Past ◽  
Resource Limited ◽  
The Central Nervous System ◽  
Motor Milestone ◽  
Behavior And Cognition ◽  
Atypical Rett Syndrome

Abstract Introduction IQSEC2-related encephalopathy is an X-linked childhood neurodevelopmental disorder with intellectual disability, epilepsy, and autism. This disorder is caused by a mutation in the IQSEC2 gene, the product of which plays an important role in the development of the central nervous system. Case Report We describe the symptomatology, clinical course, and management of a 17-month-old male child with a novel IQSEC2 mutation. He presented with an atypical Rett syndrome phenotype with developmental delay, autistic features, midline stereotypies, microcephaly, hypotonia and epilepsy with multiple seizure types including late-onset infantile spasms. Spasms were followed by worsening of behavior and cognition, and regression of acquired milestones. Treatment with steroids led to control of spasms and improved attention, behavior and recovery of lost motor milestone. In the past 10 months following steroid therapy, child lags in development, remains autistic with no further seizure recurrence. Conclusion IQSEC2-related encephalopathy may present with atypical Rett phenotype and childhood spasms. In resource-limited settings, steroids may be considered for spasm remission in IQSEC2-related epileptic encephalopathy.

Long-Term Brain Atrophy after Focal Ischemic Stroke: A Longitudinal Study Applying Deformation-Based Morphometry

2004 ◽  
Vol 35 (03) ◽  
Author(s):  
S Schnaudigel ◽  
T Ugur ◽  
F Kruggel ◽  
HJ Mentzel ◽  
C Fitzek ◽  
...  
Keyword(s):  
Ischemic Stroke ◽  
Longitudinal Study ◽  
Brain Atrophy ◽  
Deformation Based Morphometry

Cognitive training in MS: effects and relation to brain atrophy

2005 ◽  
Vol 32 (S 4) ◽  
Author(s):  
M Lanz ◽  
J Kraus ◽  
H Hahn ◽  
B Schwarze ◽  
G Schwendemann ◽  
...  
Keyword(s):  
Cognitive Training ◽  
Brain Atrophy

A Case Of Prader-Willi Syndrome With Behavioural Disturbances: A Successful Multidisciplinary Management Approach

2020 ◽  
Vol 5 (1) ◽  
pp. 83
Author(s):  
Nor Jannah Nasution Raduan ◽  
Mohd Razali Salleh ◽  
Norharlina Bahar ◽  
Mohd Faiz Md Tahir ◽  
Najwa Hanim Md Rosli
Keyword(s):  
Neurodevelopmental Disorder ◽  
Pressure Control ◽  
Family Therapist ◽  
Sleep Apnoea ◽  
Obstructive Sleep Apnoea Syndrome ◽  
Management Approach ◽  
Adolescent Psychiatrist ◽  
Prader Willi Syndrome ◽  
Obstructive Sleep ◽  
Genetically Determined

Prader-Willi Syndrome (PWS) is a genetically determined neurodevelopmental disorder occurring in 1 in 15,000 births. PWS is a rare case in Malaysia and a successful approach to its management has not been well reported here. We present a case of a 13-year-old boy with Prader-Willi Syndrome with prominent behavioural disturbances characterised by temper tantrums, compulsive food intake, stubbornness, stealing and impulsivity further complicated by underlying morbid obesity, poorly controlled type 2 diabetes mellitus, hypertension, dyslipidaemia, obstructive sleep apnoea syndrome and intellectual disability. Multidisciplinary approach involving child and adolescent psychiatrist, occupational therapist, counsellor, family therapist, endocrinologist and dietician has shown to improve the patient’s weight, glucose and blood pressure control and most importantly the behavioural disturbances.

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