| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
8 YR |
| Sex |
Female |
| Age of Onset(If not a control) |
14 MO |
| Age at Diagnosis(If not a control) |
14 MO |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
White |
| Country |
POLAND |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
GENOMIC DNA ANALYSIS REVEALED A HOMOZYGOUS MUTATION IN THE SURF1 GENE (C.845_846DELCT) - EACH PARENT IS A HETEROZYGOUS CARRIER OF THE MUTATION |
| Zygosity: |
Homozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
11 MONTHS |
| Age at Diagnosis: |
15 MONTHS |
| In Utero History Information |
| |
|
| Birth History Information |
| |
Caesarian section
|
| Additional Information: |
GREEN AMNIOTIC FLUID; APGAR SCORE OF 10 |
| Dysmorphic Features |
| |
|
| Neurological Symptoms |
| |
Hypotonia
|
| Additional Information: |
INTENTION TREMOR; PROGRESSIVE ENCEPHALOPATHY; VARIABLE MUSCLE TONE; WEAKENING OF MUSCLE TONE; MRI REVEALED BANDED CHANGES FROM THE LEVEL OF THE THALAMUS TO THE BORDER OF THE BRIDGE LIMBS AND THE WHITE PARIETAL LOBES CORRESPONDING TO DEGENERATIVE/ISCHEMIC CHANGES |
| Optical and Audiological Symptoms |
| |
Nystagmus
|
| Additional Information: |
SLIGHT HORIZONTAL NYSTAGMUS; PERIODIC DROOPING OF RIGHT EYELID (PTOSIS) WHICH INTENSIFIES DURING THE DAY |
| Musculoskeletal Symptoms |
| |
|
| Additional Information: |
VIVID TENDON REFLEXES |
| Developmental Milestones |
| |
|
| Additional Information: |
DELAYED PSYCHOMOTOR DEVELOPMENT; AT 13 MONTHS IS ABLE TO SIT DOWN AND STAND UP WITHOUT ASSISTANCE, BUT UNABLE TO WALK ALONE; PSYCHOMOTO DEVELOPMENT WAS ASSESSED WIT THE BRUNET-LEZINE TEST AT 14 MONTHS, IR=93 |
| Gastrointestinal Symptoms |
| |
|
| Additional Information: |
DURING HOSPITALIZATION TREATED FOR GASTROENTERITIS WITH PERIODIC VOMITING DUE TO A DIETARY ERROR; |
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Additional Information: |
ACUTE RHINITIS; HYPOTENSION |
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information: |
FATIGUE; EPISODES OF FAINTING |
| Additional Information |
| Testing Performed |
| Neurological Testing: |
MRI; EEG; CT; MRI WITHOUT CONTRAST REVEALED NON-DISPLACED, NON-DILATED VENTRICULAR SYSTEM, WITH SYMMETRICAL AREAS OF INCREASED SIGNAL INTENSITY IN THE T2 AND FLAIR SEQUENCES IN THE WHITE MATTER OF BOTH PARIETAL LOBES, CORRESPONDING TO AREAS OF UNDERDEVELOPED MYELINATION; EEG OF SLEEPING STATE WAS NORMAL; CT SCAN OF HEAD SHOWED THE VENTRICULAR SYSTEM IS NON-DISPLACED, SYMMETRICAL, MODERATELY DILATED, WITH NORMAL CORTICAL-SUBCORTICAL DIFFERENTIATION AND SKELETON WITHOUT PATHOLOGICAL RECONSTRUCTION; DUE TO THE PRESENCE OF NEUROLOGICAL SYMPTOMS SUCH AS PTOSIS, NYSTAGMUS, MIXED MUSCLE TONE, RESULTS OF LABORATORY TESTS AND MR IMAGE OF THE HEAD, A PROGRESSIVE NEUROLOGICAL ENCEPHALOPATHY WAS SUSPECTED |
| Musculoskeletal and Developmental Testing: |
CHEST X-RAY OF LUNG FIELDS WERE PLEURA FREE AND SHOWED NO FOCAL CHANGES IN THE PARENCHYMA |
| Respiratory and Cardiovascular Testing: |
ECHOCARDIOGRAM OF HEART WAS NORMAL, SHOWING NO ARRHYTHMIAS OR SIGNS OF ATRIAL AND VENTRICULAR HYPERTROPHY |
| Metabolic, Hematologic, and Endocrinologic Testing: |
URINE ORGANIC ACID PROFILE GC-MS WAS NORMAL; ACYLCARNITINE PROFILE MS/MS WAS VALID; TENDENCY TOWARDS ACIDOSIS, HYPERMOLACTANEMIA, COMPENSATED RESPIRATORY ALKALOSIS (BLOOD PH >7.37 AND PCO2 <35 MMHG) |
| Uncategorized Testing: |
ONCONEURAL ANTIBODIES WERE ABSENT |
| Treatments and Assistive Devices |
| |
Wheelchair or ambulation devices
|
| Medications |
| |
INFUSION FLUIDS; ZINACEF; LACIDOFIL; NASIVEN SOFT; UNIBEN (BENZYDAMINE) |
| Family History |
| |
FAMILY HISTORY OF EPILEPSY AND PROGRESSIVE DISEASE; MOTHER (GM28091) AND FATHER (GM28092) ARE HETEROZYGOUS CARRIERS OF THE MUTATION C.845_846DELCT |
| Remarks |
See Phenotypic Data tab. Unaffected mother is GM28091, unaffected father is GM28092 |