Jaylin Koerner

Jaylin's Medical Diagnosis’s-Updated 9/22/2020

Neurological

*Agenesis of corpus callosum (ACC) is a rare disorder that is present at birth (congenital). It is characterized by a partial or complete absence (agenesis) of an area of the brain that connects the two cerebral hemispheres. This part of the brain is normally composed of transverse fibers.  Individuals with a disorder of the corpus callosum typically have delays in attaining developmental milestones such as walking, talking, or reading; challenges with social interactions; clumsiness and poor motor coordination, particularly on skills that require coordination of left and right hands and feet 

*Ptosis of the Eye-Lazy Eye 

*Anxiety


*Marcus Gunn Syndrome  This condition is usually present from birth, and usually affects one eye. It sometimes runs in families.  This condition occurs when the third cranial nerve, which normally supplies messages to the upper eye lid, also sends messages to the jaw muscles.
Jaylin Tip: To get him to open his eyes you need to ask him to open his mouth and then his eyes open up more.

*Moebius syndrome is a rare neurological disorder characterized by weakness or paralysis (palsy) of multiple cranial nerves, most often the 6th (abducens) and 7th (facial) nerves. Other cranial nerves are sometimes affected. The disorder is present at birth (congenital)


*Bilateral Sixth Nerve Weakness in Eyes

*Bilateral 3rd Nerve Palsy in eyes

*Septic Optic Dysplasia -Septo-optic dysplasia (SOD), previously known as de Morsier syndrome, is a rare congenital malformation syndrome featuring underdevelopment of the optic nerve, pituitary gland dysfunction, and absence of the septum pellucidum (a midline part of the brain).

*Midline abnormal Development

*Absence of Septum Pellucidum Specifically, a thin membrane called the septum pellucidum is missing from its normal position in the middle of the brain. When it is missing, symptoms may include learning difficulties, behavioral changes, seizures , and changes in vision. Absence of the septum pellucidum is not typically seen as an isolated finding.

 *High riding 3rd Ventricle with Super Ventricle cyst Superiorly

*Colpocephaly of Lateral Ventricle- is a congenital brain abnormality in which the occipital horns - the posterior or rear portion of the lateral ventricles (cavities) of the brain -- are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken.

*Malformed Olfactory Sulcus on the left – (Possible CHARGE Syndrome)

*Misplaced Hypothalamus-  Damage to the hypothalamus may cause disruptions in body temperature regulation, growth, weight, sodium and water balance, milk production, emotions, and sleep cycles.

 

Muscle/Skeletal

*Abnormal Muscle Tone- Muscle tone refers to the state of tension within muscles. Muscles are always in a slight state of contraction, without this tension we would not be able to maintain and control upright posture and resist the force of gravity; too much tension conversely can lead to movement difficulties and other problems.

*Flexion Contracture of Knee-Surgery in 2018

*Hip Contracture- Surgery in 2018

*Progressing Scoliosis

*Poor Growth Hormone

*Spinal muscular atrophy (SMA) is a disease that robs people of physical strength by affecting the motor nerve cells in the spinal cord, taking away the ability to walk, eat, or breathe.


*Hypertonia is a condition in which there is too much muscle tone so that arms or legs, for example, are stiff and difficult to move. Muscle tone is regulated by signals that travel from the brain to the nerves and tell the muscle to contract.



*Right Sided weakness 

*Reoccurring UTI

*Meatal Stenosis S/P hypospadias repair

*Polyuria-

*ESBL proteus mirabilis-Current infection - Proteus mirabilis is a Gram-negative bacterium which is well-known for its ability to robustly swarm across surfaces in a striking bulls'-eye pattern. Clinically, this organism is most frequently a pathogen of the urinary tract, particularly in patients undergoing long-term catheterization. Proteus is a particularly toxic, difficult-to treat bacterium that can become resistant to antibiotics. Proteus produces the enzyme urease, which can reduce the acidity of the urine, allowing stones to form




Genetic:

Tubb3 – c.1138C>T  Causes Cortical Dysplasia, Complex  with other Brain Malformations Type 1 (CDCBM1) Spasticity, Strabismus, Developmental Delays, Brain abnormalities.

Mutations in the TUBB3 gene can also cause a condition called cortical dysplasia, complex, with other brain malformations 1 (CDCBM1). The brain abnormalities associated with this condition lead to intellectual disability, weak muscle tone (hypotonia), and progressive muscle stiffness (spasticity) in affected individuals. Brain malformations in CDCBM1 result from abnormal development of the surface of the brain (the cortex) and other regions such as a group of structures deep in the brain called the basal ganglia, which helps control movement; the tissue that connects the left and right halves of the brain (the corpus callosum); and the brainstem, which connects the upper parts of the brain with the spinal cord and regulates many basic body functions.




DEAF1 (c.158A>T)(p.D53V)

Associated with Developmental delays, intellectual disability, recurrent infections, behavior differences.

This gene encodes a zinc finger domain-containing protein that functions as a regulator of transcription. The encoded proteins binds to its own promoter as well as to that of several target genes. Activity of this protein is important in the regulation of embryonic development. Mutations in this gene have been found in individuals with autosomal dominant cognitive disability. Alternative splicing results in multiple transcript variants. 



Dyskinesia, seizures, and intellectual developmental disorder (DYSEIDD): A neurodevelopmental disorder characterized by psychomotor delay, epilepsy, intellectual disability, speech impairment and dyskinesia of the limbs. Patients also manifest autistic features and other behavioral abnormalities. DYSEIDD transmission pattern is consistent with autosomal recessive inheritance. [MIM:617171]

AP4E1-

Associated with Autosomal Recessive Spastic Paraplegia (spastic gait and weakness of the lower limbs and Stuttering, Familial Persistent

Spastic paraplegia 51, autosomal recessive (SPG51): A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. SPG51 is a non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system. Affected individuals manifest motor and posture impairments often associated with epilepsy and disturbances of cognition, behavior, sensation, and communication. [MIM:613744]



Stuttering, familial persistent 1 (STUT1): A familial form of stuttering, a disturbance in the normal fluency and time patterning of speech, characterized by frequent repetitions or prolongations of sounds or syllables, and by interruptions of speech known as blocks. STUT1 inheritance is autosomal dominant. [MIM:184450]

DCPS-



Associated with Autosomal Recessive Al-Raqad Syndrome.  Al-Raqad syndrome (ARS): A syndrome characterized by delayed psychomotor development, moderate to severe intellectual disability, poor or absent speech, microcephaly, congenital hypotonia, and severe growth delay. [MIM:616459]

RPGRIP1L-  c.1156A>G (p.K386E)

 The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. 



Joubert syndrome 7 (JBTS7): A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease.  Meckel syndrome 5 (MKS5): A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly  COACH syndrome (COACHS): A disorder characterized by mental retardation, ataxia due to cerebellar hypoplasia, and hepatic fibrosis. Patients present the molar tooth sign, a midbrain-hindbrain malformation pathognomonic for Joubert syndrome and related disorders.  

UNC80- (only 19 reported individuals as of September 2020)



CDC45-