| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
4 YR |
| Sex |
Male |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
White |
| Country |
RUSSIA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
MLPA OF WHOLE BLOOD DNA REVEALED COMPOUND HETEROZYGOUS MUTATIONS IN THE SURF1 GENE (NM_003172.3, MIM185620): C.845_846DELCT AND C.584G>A AND LIKELY PATHOGENIC C.584G>A(P.GLY195ASP) IN EXON 6 |
| Zygosity: |
Compound Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| In Utero History Information |
| |
|
| Birth History Information |
| |
Caesarian section
|
| Additional Information: |
CHILD FROM 1 PREGNANCY WITHOUT COMPLICATIONS; URGENT DELIVERY BY CAESARIAN SECTION; CRIED IMMEDIATELY; CORD ENTANGLEMENT; BIRTH WEIGHT 3955 G, HEIGHT 55 CM, APGAR SCORE 8/9 |
| Dysmorphic Features |
| |
Strabismus
|
| Additional Information: |
NORMOSTHENIC; OPSOCLONUS, MYOCLONUS OF THE EYELIDS FROM TIME TO TIME |
| Neurological Symptoms |
| |
Dystonia
Unstable gait
|
| Additional Information: |
CONDITION OF MODERATE SEVERITY; INFANTILE NECROTIZING ENCEPHALOPATHY (LEIGH SYNDROME) - DEGENERATIVE DISEASE OF THE NERVOUS SYSTEM - MITOCHONDRIAL ENCEPHALOMYELOPATHY; SUBCORTICAL-CEREBELLAR SYNDROME; MIXED TETRAPARESIS |
| Optical and Audiological Symptoms |
| |
Nystagmus
|
| Additional Information: |
FIXES THE EYE, FOLLOWS; PHOTOREACTION (DIRECT, FRIENDLY) IS LIVE; RANGE OF MOTION OF THE EYES IS LIMITED UPWARD AND TO THE SIDES; CONVERGENT PARALYTIC STRABISMUS OU; SPONTANEOUS VERTICAL AND HORIZONTAL NYSTAGMUS WITH ROTATOR COMPONENT |
| Musculoskeletal Symptoms |
| |
|
| Additional Information: |
POOR POSTURE; LOOSE SHOULDER GIRDLES |
| Developmental Milestones |
| |
|
| Holding Head Up Without Assistance: |
Achieved and maintained |
| Sitting Without Assistance: |
Achieved and maintained |
| Walking Without Assistance: |
Achieved and maintained |
| Additional Information: |
SLOW POSITIVE DYNAMICS IN MOTOR DEVELOPMENT AFTER HAVING COLDS, APATHY, WEAKNESS, AND SOME DETACHMENT; MILESTONES: HOLDING HEAD UP FROM 1.5 MONTHS; ROLLING OVER FROM 4 MONTHS; SITTING FROM 7.5 MONTHS; STANDING WITH SUPPORT FROM 10 MONTHS; WALKING FROM 1 YEAR 2 MONTHS; NEATNESS SKILLS ARE FORMED; VOCABULARY IS SUFFICIENT |
| Gastrointestinal Symptoms |
| |
|
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
Mood disorder
Sleep disturbances
|
| Additional Information: |
CONSCIOUSNESS IS CLEAR; FREQUENT MOOD SWINGS; TREMORS; TANTRUMS, OBSESSIVE MOVEMENTS; FREQUENT FALLING WHEN STARTED WALKING; RESTLESSNESS AND SLEEP DISORDERS BEGINNING AT 1 YEAR 3 MONTHS |
| Additional Information |
| Testing Performed |
| Neurological Testing: |
MR IMAGES REVEALED: CLEAR SYMMETRIC BILATERAL FOCI OF SELECTIVE LESIONS OF THE ANTERIOR CAUDAL AND ORAL STEMS, OF POSTERIOR PARTS OF PONS, EXTENDING UPWARD TO THE SUBCORTICAL NUCLEI OF BOTH HEMISPHERES; IMPORTANT DIFFERENTIAL DIAGNOSTIC FEATURE: THE RESTRICTION OF DIFFUSION WITH WHICH ALL FOCI ARE ASSOCIATED |
| Musculoskeletal and Developmental Testing: |
COORDINATION TESTS WITH INTENTION AND DYSMETRY ON BOTH SIDES; TETRAPARESIS UP TO 4 POINTS IN THE ARMS, 4.5 POINTS IN THE LEGS, BABINSKY'S PATHOLOGICAL REFLEX ON BOTH SIDES; TREMOR OF THE LIMBS; MUSCLE TONE IS DYSTONIC WITH HYPOTENSION; REFLEXES FROM THE ARMS ARE REDUCED, FROM THE LEGS ARE NORMAL D=S |
| Metabolic, Hematologic, and Endocrinologic Testing: |
EPISODE OF URINE RETENTION IN BLADDER FOR 8 HOURS AROUND 3 YEARS OF AGE - ULTRASOUND SHOWED INCREASE IN URINE LACTATE FROM 3.1 TO 6.8; GENERAL URINE ANALYSIS WAS WITHIN NORMAL VALUES |
| Treatments and Assistive Devices |
| |
|
| Medications |
| |
MULTIVITAMINS, ELCAR 30%, RIBOFLAVIN, PHENIBUT (FOR EMOTIONAL DISTURBANCES; NO POSITIVE EFFECT) |
| Family History |
| |
MOTHER (GM28053, FIBRO) CARRIES A HETEROZYGOUS DELETION OF C.845_846DELCT IN THE SURF1 GENE; FATHER (NOT IN REPOSITORY) CARRIES A HETEROZYGOUS MUTATION OF C.584G>A(P.GLY195ASP) IN SURF1. |
| Remarks |
See "Phenotypic Data" tab; unaffected carrier mother is GM28053 (fibro). |