Phenotype #0000307119
| Individual ID |
00415322 |
| Associated disease |
- |
| Phenotype details |
under average developmental milestones achievement, but within normal range until age 12m (head lift at 5m, sitting at 7m to standing around 12m, independent walking at 16m, voluntary grasping normally developed until age of 12m, syllables at age 5m, 3 meaningful words at age 12m); subsequently gradual loss of cognitive and motor abilities, difficulties in maintaining standing position associating frequent falls; acquirement of repetitive stereotypical non-purposeful hands movement in the midline (clapping, keeping them together and frequently introducing them in her mouth), starting around 18m; lost ambulation at age 3.5 years; clinical and neurological examination at admission 5y: head circumference: 47 cm (minus 2 standard deviations), cognitive development: ~18m, with speech impairment (8-10 meaningful words, 2 words sentences, mimicking telephone conversation); preserved vision (visual tracking of moving objects possible), motor development of 5m (head lift possible, rolling from prone to supine), axial hypotonia and limbs hypertonia with brisk deep tendon reflexes, mild truncal and limbs ataxia, combined with extrapyramidal symptoms (wide opening of the mouth), frequent episodes of spontaneous hyperventilation lasting 5-30 s; voluntary grasping present with midline stereotypical movements; magnetic resonance imaging, 5y: unnspecific abnormalities (mild global atrophy) - suspicion of Rett syndrome, but negative for MECP2 mutations. 6y: one event resembling a tonic-clonic nocturnal seizure and focal clonic seizures coming from the right hemisphere; neurological aspect was different: blindness, complete loss of purposeful hands use, no stereotypical hands movements, no spontaneous hyperventilation, mixed neurological signs: severe truncal and limbs ataxia, important contractures of soleus muscles with fixed equine position of both legs, brisk reflexes, intermittent opening of the mouth, and paroxysmal dystonic postures with extended upper and lower limbs; electroencephalogram: slow background with intermittent rhythmic delta activity runs of 2-12 s of 2.5-3.5 Hz bilateral rhythm of 70-200 mV amplitude separated by low-voltage 5-10 mV rhythms; intermittent light stimulation - no change; new MRI: more severe atrophic changes; ophthalmologic examination: pale papilla, significantly narrowed arteries and pigmentary areas in the peripheral retina; visual evoked potentials: severely prolonged conduction latencies; nerve conduction velocities: normal - absence in this moment of Rett symptoms, along with MRI abnormalities, were highly suggestive for neuronal ceroid-lipofuscinosis; bulbar conjunctive biopsy: abnormal curvilinear and fingerprint lysosomal deposits, consistent with the NCL diagnosis; no granular lipopigment (as described in CLN1 and CLN10) |
| Diagnosis/Initial |
Rett syndrome |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
late infantile neuronal ceroid lipofuscinosis |
| Age/Examination |
7y (7 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 10:13:25 +02:00 (CEST) |
| Date last edited |
N/A |
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