Jansky-Bielschowsky syndrome, a lysosomal disease: First diagnosed cash in Oman

1992 ◽  
Vol 50 (1) ◽  
pp. 632-633
Author(s):  
Line Buhl ◽  
David Muirhead
Keyword(s):  
Mental Retardation ◽  
Clinical Picture ◽  
Neurological Disorder ◽  
Clinical Presentation ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Infantile Form ◽  
Lysosomal Disease ◽  
Juvenile Form ◽  
Progressive Encephalopathy ◽  
Lysosomal Diseases

There are four lysosomal diseases of which the neuronal ceroid lipofuscinosis is the rarest. The clinical presentation and their characteric abnormal ultrastructure subdivide them into four types. These are known as the Infantile form (Santavuori-Haltia), Late infantile form (Jansky-Bielschowsky), Juvenile form (Batten-Spielmeyer-Voght) and the Adult form (Kuph's).An 8 year old Omani girl presented wth myclonic jerks since the age of 4 years, with progressive encephalopathy, mental retardation, ataxia and loss of vision. An ophthalmoscopy was performed followed by rectal suction biopsies (fig. 1). A previous sibling had died of an undiagnosed neurological disorder with a similar clinical picture.

scholarly journals Phenotypic Variations in Wolfhirschhorn Syndrome

2014 ◽  
Vol 17 (1) ◽  
pp. 23-30 ◽  
Author(s):  
Sukarova-Angelovska E. ◽  
Kocova M. ◽  
Sabolich V. ◽  
Palcevska S. ◽  
Angelkova N.
Keyword(s):  
Mental Retardation ◽  
Clinical Picture ◽  
Clinical Presentation ◽  
Molecular Techniques ◽  
Facial Dysmorphism ◽  
Clinical Appearance ◽  
Chromosomal Disorder ◽  
Midline Defects ◽  
The Brain

Abstract Wolf-Hirschhorn syndrome (WHS) is a rare chromosomal disorder caused by terminal deletion of the short arm of chromosome 4. The clinical picture includes growth retardation, severe mental retardation, characteristic “Greek helmet” like face, seizures and midline defects in the brain, heart, palate and genitalia. Recently-used molecular techniques increase the number of diagnosed cases due to the detection of smaller deletions. The severity of the clinical presentation is variable depending on the haploinsufficiency of genes in a deleted region. We present six children with WHS with variable clinical appearance. The assessment of several elements (facial dysmorphism, mental retardation, additional congenital anomalies) provided classification into minor, mild or severe forms. Three of the children had a visible cytogenetic deletion on chromosome 4p, two had microdeletions detected with fluorescent in situ hybridization (FISH), and one child with a less characteristic clinical picture had a mosaic type of the deletion. Correlation between the clinical presentation and the length of the deleted region was confirmed.

MRI and localized proton MRS in early infantile form of neuronal ceroid-lipofuscinosis

1993 ◽  
Vol 9 (1) ◽  
pp. 57-60 ◽  
Author(s):  
Sylviane Confort-Gouny ◽  
Brigitte Chabrol ◽  
Jean Vion-Dury ◽  
Josette Mancini ◽  
Patrick J. Cozzone
Keyword(s):  
Neuronal Ceroid Lipofuscinosis ◽  
Infantile Form ◽  
Proton Mrs ◽  
Ceroid Lipofuscinosis

scholarly journals Hepatitis and Meningoencephalitis due to Enterovirus in a Toddler

2018 ◽  
Vol 3 (1) ◽  
pp. 43
Author(s):  
Mohammad Ali Raza Qizalbash ◽  
Rida Zahra ◽  
Adnan Adil Mithwani ◽  
Anwar Adil Mithwani ◽  
Muaaz Adil Mithwani
Keyword(s):  
Acute Hepatitis ◽  
Clinical Picture ◽  
Clinical Presentation ◽  
Viral Infections ◽  
Coxsackie Virus ◽  
Watery Diarrhea ◽  
Case Presentation

Background: Acute hepatitis caused by viral organisms which are typically implicated in the cases of encephalitis are rarely reported in literature. The presentation of enteroviral meningoencephalitis predominated with the clinical picture of hepatitis has rarely been recorded in populations other than neonates. Case Presentation: A male 2-year-old, presenting with a fever of 38 to 40 °C with chills and rigors, lethargy and drowsiness for 6 days. Along with the nausea, vomiting and watery diarrhea, he developed mouth ulcers (peri-oral vesicles) during the stay at the hospital. After extensive workup he was later diagnosed with meningoencephalitis and acute hepatitis due to Coxsackie virus A. After a stay of more than a month he was successfully treated and discharge. Conclusion: A more thorough evaluation should be carried out for atypical viral infections presenting with clinical presentation of hepatitis and meningoencephalitis.

CEREBRAL GIGANTISM IN CHILDHOOD

PEDIATRICS ◽  
1967 ◽  
Vol 40 (3) ◽  
pp. 395-402
Author(s):  
Aubrey Milunsky ◽  
Valerie A. Cowie ◽  
Elaine C. Donoghue
Keyword(s):  
Growth Hormone ◽  
Mental Retardation ◽  
Neurological Disorder ◽  
Pathogenic Mechanism ◽  
Plasma Growth Hormone ◽  
High Arched Palate ◽  
Cerebral Gigantism ◽  
Hypothalamic Pituitary Axis ◽  
Neurological Lesion ◽  
Mechanism Operative

Two cases of cerebral gigantism in childhood are reported, and 14 earlier cases are reviewed. The major manifestations of this non-progressive neurological disorder included gigantism, macrocrania, dolichocephaly, mental retardation, characteristic facies, high arched palate, and ataxia or clumsiness. Pneumoencephalography in 10 out of 11 cases revealed a dilated ventricular system. Normal fasting plasma growth hormone levels were found in our patients, but both showed evidence of impaired function of the hypothalamic-pituitary axis in that these levels failed to rise following marked hypoglycemia. Abnormal dermatoglyphic patterns are reported and their value as an aid to diagnosis is mooted. Both the cause and the nature of the neurological lesion remain obscure. The evidence favors a pathogenic mechanism operative in utero.

Chemical and Pathological Findings in a Case of Late Infantile Amaurotic Family Idiocy of the Batten Type

1958 ◽  
Vol 104 (434) ◽  
pp. 91-102 ◽  
Author(s):  
A. H. Tingey ◽  
R. M. Norman ◽  
H. Urich ◽  
W. H. Beasley
Keyword(s):  
Individual Case ◽  
Pathological Findings ◽  
Infantile Form ◽  
Juvenile Form ◽  
Amaurotic Idiocy ◽  
Tay Sachs Disease ◽  
Decisive Importance ◽  
Juvenile Type ◽  
Batten's Disease

The customary classification of the amaurotic family idiocies according to the time of life at which neurological signs first appear has obvious limitations when consideration is given to cases occupying an intermediate position between the well-established infantile form of Tay-Sachs' and the juvenile form first described by Batten (1903). It was to this group of atypical cases that Bielschowsky (1913–14, 1920) gave the name “late infantile”. This term is convenient clinically but when more examples of the variant had been reported it became evident that the group of cases so designated was not homogeneous. Wyburn-Mason (1943) was able to show in a large clinical material that many of these intermediate forms belonged either to families affected by Tay-Sachs' or by Batten's disease and that in an individual case the ophthalmological findings were usually of decisive importance in classification. The existence of a precocious variant of the classical “juvenile” type of amaurotic idiocy was thus clearly established. Klenk's (1939) discovery that the nerve cells in Tay-Sachs' disease contain large amounts of a glycolipid subsequently called “ganglioside” has provided a further valuable criterion in distinguishing this form of lipidosis from other members of the group. The present case, an example of the precocious juvenile type of amaurotic idiocy or, as we prefer to name it, the subacute form of Batten's disease, is presented as a further contribution to this subject.

Angelman Syndrome

2013 ◽  
Author(s):  
Edwin J. Weeber
Keyword(s):  
Developmental Delay ◽  
Angelman Syndrome ◽  
Neurological Disorder ◽  
Motor Coordination ◽  
Clinical Presentation ◽  
Sleep Disruption ◽  
Behavioral Difficulties ◽  
Symptom Complex ◽  
Degrees Of Severity

Angelman syndrome (AS) is a devastating neurological disorder with a symptom complex that includes but is not limited to severe developmental delay, profound cognitive disruption, motor coordination defects, increased propensity for seizure with a characteristic abnormal electroencephalogram, sleep disruption, behavioral difficulties, a lack of speech, and an overall happy demeanor. Although the disorder was first described in 1965 by British pediatrician Dr. Harry Angelman, because AS is clinically characterized by a wide constellation of symptoms with varying degrees of severity, it is not readily diagnosed by clinical presentation alone and misdiagnosis has commonly occurred.

scholarly journals Gaucher’s Disease in Lithuania: Its Diagnosis and Treatment

Medicina ◽  
2011 ◽  
Vol 47 (7) ◽  
pp. 405
Author(s):  
Gražina Kleinotienė ◽  
Anna Tylki-Szymanska ◽  
Barbara Czartoryska
Keyword(s):  
Clinical Picture ◽  
Hematological Parameters ◽  
Bone Lesions ◽  
Lysosomal Storage ◽  
Gaucher's Disease ◽  
Gaucher’S Disease ◽  
Lysosomal Disease ◽  
Therapeutic Goals ◽  
Enzyme Replacement

Gaucher’s disease is a lysosomal storage disease caused by the lack of beta-glucocerebrosidase enzyme, leading to the accumulation of glucocerebroside. Gaucher’s disease is the most frequent type of sphingolipidosis as well as the most frequent lysosomal disease. Clinically, two forms of Gaucher’s disease are defined: nonneuronopathic form, so-called type 1, characterized by hepatosplenomegaly, thrombocytopenia, anemia, and osteopenia, and neuronopathic form, known as types 2 and 3, which are also characterized by hepatosplenomegaly, hematological and bone changes; however, involvement of the central nervous system dominates in the clinical picture. Severe deficiency of beta-glucocerebrosidase activity allows confirming the diagnosis based on the clinical picture or the findings of bone marrow examination. Treatment with human glucocerebrosidase was introduced in 1991. Clinically good results are achieved: not only accumulation of glucocerebroside is stopped, but also positive changes in the reticuloendothelial system and an improvement in development and hematological parameters of children are observed as well as the development of bone lesions is reduced. To date, Gaucher’s disease has been diagnosed in 8 patients in Lithuania: 3 persons have type 3 and 5 have type 1 disease. Enzyme replacement therapy was started in 2001, and currently 6 persons are being treated. In majority of patients, Gaucher’s disease was suspected after exclusion of other possible proliferative diseases. All patients within the first or second year of treatment achieved the therapeutic goals, namely: normalization of hematological parameters, reduction in liver and spleen volumes, and bone pain relief.

scholarly journals Current Insights in Elucidation of Possible Molecular Mechanisms of the Juvenile Form of Batten Disease

2020 ◽  
Vol 21 (21) ◽  
pp. 8055
Author(s):  
Elena K. Shematorova ◽  
George V. Shpakovski
Keyword(s):  
Molecular Mechanisms ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Transmembrane Protein ◽  
Mammalian Species ◽  
Disease Onset ◽  
In Vivo Studies ◽  
Neuronal Ceroid Lipofuscinoses ◽  
Juvenile Form ◽  
Molecular Features ◽  
Human Specific

The neuronal ceroid lipofuscinoses (NCLs) collectively constitute one of the most common forms of inherited childhood-onset neurodegenerative disorders. They form a heterogeneous group of incurable lysosomal storage diseases that lead to blindness, motor deterioration, epilepsy, and dementia. Traditionally the NCL diseases were classified according to the age of disease onset (infantile, late-infantile, juvenile, and adult forms), with at least 13 different NCL varieties having been described at present. The current review focuses on classic juvenile NCL (JNCL) or the so-called Batten (Batten-Spielmeyer-Vogt; Spielmeyer-Sjogren) disease, which represents the most common and the most studied form of NCL, and is caused by mutations in the CLN3 gene located on human chromosome 16. Most JNCL patients carry the same 1.02-kb deletion in this gene, encoding an unusual transmembrane protein, CLN3, or battenin. Accordingly, the names CLN3-related neuronal ceroid lipofuscinosis or CLN3-disease sometimes have been used for this malady. Despite excessive in vitro and in vivo studies, the precise functions of the CLN3 protein and the JNCL disease mechanisms remain elusive and are the main subject of this review. Although the CLN3 gene is highly conserved in evolution of all mammalian species, detailed analysis of recent genomic and transcriptomic data indicates the presence of human-specific features of its expression, which are also under discussion. The main recorded to date changes in cell metabolism, to some extent contributing to the emergence and progression of JNCL disease, and human-specific molecular features of CLN3 gene expression are summarized and critically discussed with an emphasis on the possible molecular mechanisms of the malady appearance and progression.

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