Sialidosis type 1: cherry red spot-myoclonus syndrome with sialidase deficiency and altered electrophoretic mobilities of some enzymes known to be glycoproteins. 1. Clinical findings.

AbstractGlucose transporter type-1 deficiency syndrome (Glut1 DS) is a rare disorder with various manifestations. Early diagnosis is crucial because treatment with the ketogenic diet can lead to clinical improvement. Here, we report the cases of two siblings with Glut1 DS and one of them presented with sleep disorder which is a rare and atypical manifestation of Glut1 DS. Patient 1 was a 3.5-year-old boy who presented with paroxysmal loss of tone and weakness of the whole body with unresponsiveness after waking up. He also had excessive daytime sleepiness, insomnia, and restless sleep. His other clinical findings included focal seizures, paroxysmal exercise-induced dyskinesia (PED), ataxia, mild global developmental delay, and hyperactivity. Patient 2 was a 5.5-year-old boy who presented with drug-resistant focal epilepsy, global developmental delay, paroxysmal dystonia, and ataxia. A novel heterozygous nonsense variant of SLC2A1, c.1177G > T (p.Glu393*), classified as a pathogenic variant, was identified in both patients, but not in their parents' blood. After treatment with the modified Atkins diet, their neurological functions significantly improved. In conclusion, we reported two siblings with variable phenotypes of Glut1 DS with a novel nonsense mutation. Although sleep disorder and daytime somnolence were the nonclassical manifestations of Glut1 DS, the diagnostic evaluation of possible Glut1 DS in patients presented with daytime sleepiness, particularly in cases with the cooccurrence of seizures or movement disorders should be considered.

Download Full-text

Clinical Features of Infantile GM1 Gangliosidosis: Report of an Iranian Patient

World Journal of Peri & Neonatology ◽

10.18502/wjpn.v3i1.5066 ◽

2020 ◽

Author(s):

Mahtab Ordooei ◽

Razieh Fallah ◽

Fatemeh Abdi ◽

Fahimeh Soheilipour

Keyword(s):

Lysosomal Storage ◽

Gm1 Gangliosidosis ◽

Case Presentation ◽

Iranian Patient ◽

Cherry Red Spot ◽

Type 3 ◽

Initial Check ◽

Infantile Type

Background: GM1 gangliosidosis is an autosomal recessive lysosomal storage disease due to a lack of β-galactosidase activity, exactly because of mutations in the GLB1 gene. GM1 gangliosidosis is a rare disease that could occur either during infancy (infantile type 1), as a juvenile (type 2), or in adulthood (type 3) in both nervous and skeletal systems. Type 1 is characterized by premature psychomotor deterioration, visceromegaly, macular cherry-red spot, skeletal deformities, and death in the first 2 years of life. Case Presentation: We reported an Iranian infant who, on initial check-up, had coarse face, visceromegaly, dystonia, and hepatosplenomegaly that increased at 15 months of age. At the initial check-up, a genetic test was performed and GM1 gangliosidosis type 1 was diagnosed. Conclusion: infant form is characterized by early-onset before the age of 6 months and rapidly progressive psychomotor deterioration, facial abnormalities, and visceromegaly.

Download Full-text

Acromesomelic and Acromelic Dysplasias/Dysostoses

Bone Dysplasias ◽

10.1093/med/9780190626655.003.0013 ◽

2018 ◽

pp. 443-496

Author(s):

Jürgen W. Spranger ◽

Paula W. Brill ◽

Christine Hall ◽

Gen Nishimura ◽

Andrea Superti-Furga ◽

...

Keyword(s):

Clinical Findings ◽

Differential Diagnoses ◽

Radiographic Features ◽

Albright Hereditary Osteodystrophy ◽

Grebe Dysplasia ◽

Myhre Syndrome ◽

Acromicric Dysplasia

This chapter discusses acromesomelic and acromelic dysplasias/dysostoses and related disorders and includes discussion on acromesomelic dysplasias (Maroteaux type), Grebe dysplasia, brachydactyly A1, brachydactyly B, brachydactyly C, brachydactyly D, brachydactyly E, brachydactyly (Christian type), tricho-rhino-phalangeal dysplasia (type 1), tricho-rhino-phalangeal dysplasia (type 2), acrocapitofemoral dysplasia, Albright hereditary osteodystrophy, acrodysostosis, geleophysic dysplasia, acromicric dysplasia, Myhre syndrome, and SOFT syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

Download Full-text

Filamin-Associated Dysplasias/Dysostoses and Related Disorders

Bone Dysplasias ◽

10.1093/med/9780190626655.003.0009 ◽

2018 ◽

pp. 307-350

Author(s):

Jürgen W. Spranger ◽

Paula W. Brill ◽

Christine Hall ◽

Gen Nishimura ◽

Andrea Superti-Furga ◽

...

Keyword(s):

Autosomal Dominant ◽

Clinical Findings ◽

Differential Diagnoses ◽

Type I ◽

Syndrome Type ◽

Type Ii ◽

Radiographic Features ◽

Larsen Syndrome ◽

Otopalatodigital Syndrome

This chapter discusses filamin-associated dysplasias/dysostoses and related disorders and includes discussion on otopalatodigital syndrome type 1, otopalatodigital syndrome type II, Melnick-Needles osteodysplasty, frontometaphyseal dysplasia, boomerang dysplasia/atelosteogenesis type I, atelosteogenesis type III, Larsen syndrome (autosomal dominant), spondylocarpotarsal synostosis syndrome, and Frank-ter Haar syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

Download Full-text

Mosaic Neurofibromatosis Type 1 in Children: A Single-Institution Experience

Journal of Cutaneous Medicine and Surgery ◽

10.1177/1203475417708163 ◽

2017 ◽

Vol 21 (5) ◽

pp. 379-382 ◽

Cited By ~ 2

Author(s):

Irene Lara-Corrales ◽

Mitra Moazzami ◽

Maria Teresa García-Romero ◽

Elena Pope ◽

Patricia Parkin ◽

...

Keyword(s):

Neurofibromatosis Type 1 ◽

Neurofibromatosis Type ◽

Cross Sectional Study ◽

Clinical Findings ◽

Loss Of Function ◽

Cross Sectional ◽

Uncommon Presentation ◽

Sick Children

Background: Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder caused by loss-of-function mutation in the NF1 gene. Segmental or mosaic NF1 (MNF) is an uncommon presentation of the NF1 result of postzygotic mutations that present with subtle localised clinical findings. Objectives: Our study’s objectives were to describe the clinical characteristics of children with MNF. Methods: We conducted a cross-sectional study of children diagnosed with MNF at the Hospital for Sick Children in Toronto, Canada, from January 1992 to September 2012. Data were abstracted from health records and analysed using a standardised data collection form approved by our hospital Research Ethics Board. Results: We identified 60 patients with MNF; 32 of 60 (53.3%) were female. Mean ± SD age at first assessment was 10.6 ± 4.6 years. The most common initial physical manifestation in 39 of 60 (65.0%) patients was localised pigmentary changes only, followed by plexiform neurofibromas only in 10 of 60 (16.7%) and neurofibromas only in 9 of 60 (15.0%). Unilateral findings were seen in 46 of 60 (76.7%) patients. Most common associations identified included learning disabilities (7/60; 12%) and bony abnormalities (6/60; 10.0%). Conclusions: MNF is an underrecognised condition with potential implications for patients. Children mostly present with pigmentary anomalies only. Most patients do not develop associated findings or complications before adulthood, but long-term follow-up will help determine outcomes and possible associations. Recognition and confirmation of the diagnosis is important to provide follow-up and genetic counselling to patients.

Download Full-text

Sialidosis Type 1 Without Cherry-Red Spot

Journal of Neuro-Ophthalmology ◽

10.1097/wno.0000000000000773 ◽

2019 ◽

Vol 39 (3) ◽

pp. 388-390

Author(s):

Alaa S. Bou Ghannam ◽

Lauren C. Mehner ◽

Victoria S. Pelak

Keyword(s):

Cherry Red Spot

Download Full-text

Solitary Encapsulated Neurofibroma Not Associated with Neurofibromatosis-1 Affecting Tongue in a 73-Year-Old Female

Case Reports in Dentistry ◽

10.1155/2016/3630153 ◽

2016 ◽

Vol 2016 ◽

pp. 1-4 ◽

Cited By ~ 1

Author(s):

Sk. Abdul Mahmud ◽

Neha Shah ◽

Moumita Chattaraj ◽

Swagata Gayen

Keyword(s):

Family History ◽

Clinical Manifestations ◽

Surgical Excision ◽

Neurofibromatosis Type ◽

Clinical Findings ◽

Benign Tumors ◽

History Of

Neurofibromas are benign tumors of nerve cell origin arising due to proliferation of Schwann cells and fibroblasts. They are usually asymptomatic and hence remain undiagnosed. They are commonly found on the skin and intraorally tongue is the most common site for their occurrence. Here, we present a unique case of solitary encapsulated neurofibroma in the oral cavity without any clinical manifestations or family history of Neurofibromatosis type 1 in a 73-year-old female patient who presented with a painless swelling on the tongue. The histopathologic findings closely mimicked benign fibrous histiocytoma. In our case, definitive diagnosis of neurofibroma was made based on clinical findings, family history, and histopathological and immunohistochemical evaluation. Through this case report we want to emphasize the role of biopsy and immunohistochemistry in arriving at a confirmatory diagnosis. The patient was treated by surgical excision and showed no signs of recurrence over a follow-up period of 12 months.

Download Full-text

Kenny-Caffey syndrome (Mim 244460 [Type I]; 127000 [Type 2])

Bone Dysplasias ◽

10.1093/med/9780195396089.003.0089 ◽

2012 ◽

pp. 389-391

Author(s):

Jürgen W. Spranger ◽

Paula W. Brill ◽

Gen Nishimura ◽

Andrea Superti-Furga ◽

Sheila Unger

Keyword(s):

Clinical Findings ◽

Differential Diagnoses ◽

Type I ◽

Radiographic Features

Chapter 89 covers Kenny-Caffey syndrome (MIM 244460 [type 1], 127000 [type 2]), including major clinical findings, radiographic features, and differential diagnoses.

Download Full-text

Filamin B Group

Bone Dysplasias ◽

10.1093/med/9780195396089.003.0023 ◽

2012 ◽

pp. 112-124

Author(s):

Jürgen W. Spranger ◽

Paula W. Brill ◽

Gen Nishimura ◽

Andrea Superti-Furga ◽

Sheila Unger

Keyword(s):

Autosomal Dominant ◽

Clinical Findings ◽

Differential Diagnoses ◽

Radiographic Features ◽

Larsen Syndrome ◽

Filamin B

Chapter 23 covers disorders of the Filamin B group (Boomerang dysplasia/atelosteogenesis type 1 (MIM 112310, 108720), atelosteogenesis type 2 (MIM 108721), Larsen syndrome, autosomal dominant (MIM 150250), spondylocarpotarsal synostosis syndrome (MIM 272460), including major clinical findings, radiographic features, and differential diagnoses.

Download Full-text

Filamin A Group

Bone Dysplasias ◽

10.1093/med/9780195396089.003.0022 ◽

2012 ◽

pp. 93-111

Author(s):

Jürgen W. Spranger ◽

Paula W. Brill ◽

Gen Nishimura ◽

Andrea Superti-Furga ◽

Sheila Unger

Keyword(s):

Type A ◽

Clinical Findings ◽

Differential Diagnoses ◽

Syndrome Type ◽

Filamin A ◽

Radiographic Features ◽

Otopalatodigital Syndrome

Chapter 22 covers Type A filaminopathies and related disorders (otopalatodigital syndrome type 1 (MIM 311300), otopalatodigital syndrome type 2 (MIM304120), Melnick-Needles osteodysplasty (MIM 309350), frontometaphyseal dysplasia (MIM 305620), Frank-Ter Harr syndrome (MIM 249420)), including major clinical findings, radiographic features, and differential diagnoses.

Download Full-text