| Demographic Data |
| Relation to Proband |
brother |
| Age at Sampling |
3 YR |
| Sex |
Male |
| Age of Onset(If not a control) |
2 MO |
| Age at Diagnosis(If not a control) |
3 YR |
| Racial Category |
White |
| Country |
ARGENTINA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
TARGETED NEXT GENERATION SEQUENCING OF A REGION WITHIN THE SURF1 GENE REVEALED COMPOUND HETEROZYGOUS FAMILIAL PATHOGENIC VARIANTS IN EXON 9 OF THE SURF1 GENE (NM_003172.2), C.834G>A (P.W278*) AND C.845_846DEL (P.S282CFS*9) |
| Zygosity: |
Compound Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
2 MONTHS |
| Age at Diagnosis: |
3 YEARS |
| In Utero History Information |
| |
|
| Birth History Information |
| |
Caesarian section
|
| Additional Information: |
SECOND DIZYGOTIC TWIN; ICTERUS WAS TREATED WITH 1 DAY OF LUMINOTHERAPY |
| Dysmorphic Features |
| |
|
| Additional Information: |
HYPERTRICHOSIS |
| Neurological Symptoms |
| |
Hypotonia
|
| Additional Information: |
GENERALIZED HYPOTONIA AT 17 MONTHS |
| Optical and Audiological Symptoms |
| |
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| Additional Information: |
PROGRESSIVE ABNORMAL OCULAR MOVEMENTS UNCONJUGATED WITH PTOSIS |
| Musculoskeletal Symptoms |
| |
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| Developmental Milestones |
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| Additional Information: |
NORMAL GROWTH AND DEVELOPMENT UNTIL 1 YEAR; MOTOR COMPROMISE INCREASED PROGRESSIVELY, LOST THE STAND-UP POSITION AND FATIGUE INCREASED |
| Gastrointestinal Symptoms |
| |
|
| Additional Information: |
VOMITING DURING FEBRIL ILLNESS; AT 17 MONTHS, PRESENTED WITH VOMITING AND PROGRESSIVE TACHYPNEA DURING A GASTROINTESTINAL INFECTION |
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Additional Information: |
PROGRESSIVE O2 DESATURATION |
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information |
| Testing Performed |
| Cognitive and Behavioral Testing: |
AT 17 MONTHS MRI SHOWED BILATERAL HYPERINTENSITIES IN T2 AND FLAIR AT LEVEL OF MEDULLA OBLONGATA, DORSAL PART AND PERIAQUEDUCTAL PART OF PROTUBERANCE, AND SUBTHALAMIC NUCLEI; AT 3 YEARS MRI SHOWED INCREASED HYPERINTENSE LESIONS IN BRAIN STEM AND THE APPEARANCE OF BILATERAL BIPUTAMINAL LESIONS IN POSTERIOR |
| Metabolic, Hematologic, and Endocrinologic Testing: |
METABOLIC ACIDOSIS, INCREASED LACTIC ACID (7.9 MMOL/L), BETA OH BUTYRATE (1.9 MMOL/L), MODERATE DECREASED FREE AND TOTAL CARNITINE, INCREASED LACTIC ACID IN CSF (4.9 MMOL/L) |
| Treatments and Assistive Devices |
| |
Speech therapy
|
| Additional Testing: |
NASOGASTRIC DRIP USED FOR NOURISHMENT; FROM 3 YEARS TRACHEOSTOMY AND GASTROSTOMY |
| Medications |
| |
CARNITINE; IDEBENONE; THIAMINE, RIBOFLAVIN |
| Family History |
| |
OLDER BROTHER SHARES THE SAME PATHOGENIC MUTATIONS IN SURF1 |
| Remarks |
See Phenotypic Data tab. Clinically affected; has one affected sibling in family 3519: Unaffected carrier mother is GM28035 (fibro), Unaffected carrier father is GM28036 (fibro), affected brother is GM28034 (fibro). |