Schmid-Fraccaro Syndrome: Severe Neurologic Features

Romagna, Elisa Sfoggia; Silva, Marcelo Campos Appel da; Ballardin, Patrícia Andréia Zanetti

doi:10.1016/j.pediatrneurol.2009.07.020

Cited by 6 publications

(4 citation statements)

References 12 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Furthermore, epilepsy is reported being one possible comorbidity in CES (3) as well as in other chromosome 22q11 aberrations. Literature reports few CES patients with different kinds of seizures in their history (6)(7)(8) and more cases of epilepsy in chromosome 22q11 anomalies (9)(10)(11)(12)(13)(14)(15)(16)(17)(18). In the present paper, we report on a young adult with tetrasomy of the region 22q11.1q11.21 associated with drug resistant epilepsy, severe intellectual disability and cranial and facial dysmorphic features.…”

Section: Introductionmentioning

confidence: 70%

“…This patient presented total anomalous pulmonary © C I C E d i z i o n i I n t e r n a z i o n a l i venous return surgically treated like elsewhere reported (8) associated with some CES dysmorphic features. Furthermore, the patient presents also some classical physical malformations like ocular hypertelorism (6,7,22), long and asymmetric face (8). From a cognitive and behavioural point of view, the patient presents a severe cognitive disability (7) and a significant impairment in adaptive behaviour and autonomy.…”

Section: Discussionmentioning

confidence: 99%

“…Furthermore, the patient presents also some classical physical malformations like ocular hypertelorism (6,7,22), long and asymmetric face (8). From a cognitive and behavioural point of view, the patient presents a severe cognitive disability (7) and a significant impairment in adaptive behaviour and autonomy. In addition, severe speech/language impairment is present and our patient can pronounce very few words.…”

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Drug resistant epilepsy in a young male with Cat Eye Syndrome: a case study

Verri¹

2017

CCRE

View full text Add to dashboard Cite

The Cat Eye Syndrome (CES) is a rare syndrome associated with gains of the pericentromeric region of chromosome 22. It is usually characterized by multiorgan and physical malformation, skeletal problems, short stature, anal atresia and moderate to severe intellectual disability. We present a case study of a 31-year-old-male affected by tetrasomy in the q11.1q11.21 region of the chromosome 22. We also carried out clinical, neurophysiological and neuroradiological evaluations, and psychometric assessment. Moreover, the patient underwent Array-CGH, conventional cytogenetic and FISH analysis. Clinically, we observed a pulmonary venous malformation which had been surgically treated, and several physical malformations. From a neurological point of view, we observed the following characterizing elements: intellectual disability, adaptive impairment and focal epilepsy. Seizures were characterized by loss of contact, staring, face pallor, motor stereotypies such as nose scratching, bimanual automatisms, chewing and severe asthenia. As the child grew seizures became more and more frequent (up to one/two episodes a day) and were drug resistant. Prolonged EEG recordings captured focal seizures originating on the left temporal leads. Magnetic resonance imaging (MRI) documented thinning of the corpus callosum, hypomyelination of the semi-oval centers, extensive and multifocal subcortical malacic areas and gliosis in the brain. Although seizure characterization is lacking in CES, in the present case, paralleling anatomic defects and intellectual disability, epilepsy emerged as a main disturbance in the clinical picture of CES.

show abstract

Section: Introductionmentioning

confidence: 70%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Drug resistant epilepsy in a young male with Cat Eye Syndrome: a case study

Verri¹

2017

CCRE

View full text Add to dashboard Cite

show abstract

“…Only a few patients diagnosed with CES have been reported as suffering from a severe developmental delay. These patients did not carry the common type 1 sSMC but carried other chromosomal anomalies rarely reported to be associated with the CES phenotype: partial trisomy 22q (more often associated with severe ID/DD [ 6 , 7 ]) or a type 2 sSMC [ 8 ]. It is noteworthy that none of these patients have been assessed with array-CGH; hence, the presence of an additional, small, associated chromosomal imbalance (which may have been involved in the severe neurological phenotype) cannot be ruled out.…”

Section: Discussionmentioning

confidence: 99%

Severe Psychomotor Delay in a Severe Presentation of Cat-Eye Syndrome

Jedraszak¹,

Receveur

Andrieux

et al. 2015

Case Reports in Genetics

View full text Add to dashboard Cite

Cat-eye syndrome is a rare genetic syndrome of chromosomal origin. Individuals with cat-eye syndrome are characterized by the presence of preauricular pits and/or tags, anal atresia, and iris coloboma. Many reported cases also presented with variable congenital anomalies and intellectual disability. Most patients diagnosed with CES carry a small supernumerary bisatellited marker chromosome, resulting in partial tetrasomy of 22p-22q11.21. There are two types of small supernumerary marker chromosome, depending on the breakpoint site. In a very small proportion of cases, other cytogenetic anomalies are reportedly associated with the cat-eye syndrome phenotype. Here, we report a patient with cat-eye syndrome caused by a type 1 small supernumerary marker chromosome. The phenotype was atypical and included a severe developmental delay. The use of array comparative genomic hybridization ruled out the involvement of another chromosomal imbalance in the neurological phenotype. In the literature, only a few patients with cat-eye syndrome present with a severe developmental delay, and all of the latter carried an atypical partial trisomy 22 or an uncharacterized small supernumerary marker chromosome. Hence, this is the first report of a severe neurological phenotype in cat-eye syndrome with a typical type 1 small supernumerary marker chromosome. Our observation clearly complicates prognostic assessment, particularly when cat-eye syndrome is diagnosed prenatally.

show abstract