Phenotype #0000307135
| Individual ID |
00415338 |
| Associated disease |
- |
| Phenotype details |
born from the fifth pregnancy, second childbirth, delivered by Caesarean section; birthweight: 3800 g; height: 53 cm; Apgar scores, 8 and 8 at 1 and 5 min respectively; no abnormalities in the neonatal period; up to 2.5 years developing according to age without delay of speech and motor development; 2.5y: against a background of trauma of little finger, girl stopped talking; gradually speech restored, but vocabulary decreased; 3y: first febrile seizure attack; significant deterioration in speech and communication, socially withdrawn; brain magnetic resonance imaging: diffuse lesions in the white matter and hypoplasia of the lower cerebellar vermis; 3.5y stereotypic movements appeared; valproic acid (antiepileptic drug); motor deterioration progressed: by the age of 5 stopped walking; Rett syndrome suggested; 5y8m: motor and mental deterioration, visual impairmentand stereotypies; normal physical development: weight: 20.5 kg and height: 111 cm; head: normal shape, head circumference: 50.5 cm (normal);skin: normal and clean; abdomen: soft, painless.; stool and micturition: normal; basic blood and urine tests: normal; no interest in environment, no play activity, absent orientation in space and time; speech and understanding of speech disturbed, used only sounds and syllables; stereotypic movements of hands and face, myoclonus in hands, legs and facial muscles; tactile stimulation enhances myoclonus; able to only hold her head, roll over, sit with periodic falls; ophthalmological evaluation: partial atrophy of optic nerves, nystagmus, retinitis pigmentosa and mixed astigmatism; electroencephalography: significant delay in the formation of cortical electrogenesis and poorly-structured epileptiform activity in the occipitalparietal-posterior temporal regions; magnetic resonance imaging: cortical atrophy, periventricular leukopathy of both hemispheres of the brain and atrophy of the cerebellum; electrocardiography: severe sinus bradyarrhythmia; heart rate 48–84 beats per minu |
| Diagnosis/Initial |
Rett syndrome |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
late infantile neuronal ceroid lipofuscinosis |
| Age/Examination |
5y (5 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-08-12 13:10:09 +02:00 (CEST) |
| Date last edited |
N/A |
|
