What Exactly is Wrong with Matthew?

After doing even more research I found the following at Journal of Neurology Neurosurgery and Psychiatry. A detailed look at Matthew's diagnosis. In short, we just call is a CONGENITAL ABNORMALITY OF THE CENTRAL NERVOUS SYSTEM OR CNSD.

All this means is when Matthew's brain was developing, something happened that caused the neuronal migration to go haywire. If they don't fully finish migrating, it result in cell death or malformation. Matthew's brain quit developing before it should have. Even his soft spot (Fontenal) closed early.. His brain though it was finished developing. .. We didn't even notice he barely had a soft spot after birth. The only thing that lead to and MRI was because his head measured smaller than that of a normal baby boy.. then we notice the soft spot was almost closed.

Induction—After development of the three cell layers of the early embryo (ectoderm, mesoderm, and endoderm), the underlying mesoderm (the "inducer") sends signals to a region of the ectoderm (the "induced tissue"), instructing it to develop into neural tissue.
Neural tube formation—The neural ectoderm folds to form a tube, which runs for most of the length of the embryo.
Regionalisation and specification—Specification of different regions and individual cells within the neural tube occurs in both the rostral/caudal and dorsal/ventral axis. The three basic regions of the CNS (forebrain, midbrain, and hindbrain) develop at the rostral end of the tube, with the spinal cord more caudally. Within the developing spinal cord specification of the different populations of neural precursors (neural crest, sensory neurones, interneurones, glial cells, and motor neurones) is observed in progressively more ventral locations. This process results from the interaction between genes whose expression defines individual territories or cell types, and diffusible signalling molecules (such as sonic hedgehog) secreted by adjacent areas of the embryo.
Proliferation and migration—The most dorsal cells of the tube (the neural crest) migrate away to form much of the peripheral nervous system. Cell proliferation within the tube leads to thickening of the wall and many different cell types move to their correct locations. The development of the forebrain cortex provides a good example. An area called the germinal matrix adjacent to the lumen of the neural tube (the future ventricular system) contains neural stem cells that are precursors of the neurones and of the two glial cell types, oligodendrocytes and astrocytes. Neuronal precursor cells migrate, often along specialised cells called radial glial cells, to their final and particular locations in one of the six layers of the cerebral cortex.
Connection and selection—Once each cell is specified according to type and is in an appropriate location, axon outgrowth and synapse formation occurs. The mechanisms that control these connections are complex and incompletely understood. Cells failing to establish the correct connections undergo programmed cell death (apoptosis) as a result of a failure to obtain survival factors produced by the target cells.

Disorders of proliferation and differentiationMicrocephalyThis is an abnormally small head circumference (< 0.4th centile on occipito-frontal head circumference charts), which is disproportionately small in relation to the rest of the body. The usual implication of this finding is that brain growth is not normal. However, if a small head circumference is detected in the neonatal period it is prudent to perform an x ray of the skull to look for evidence of early closure of all the cranial sutures (total craniosynostosis)

Disorders of migrationMigrating neurones may fail to reach their intended destination in the cerebral cortex. The abnormalities may be focal or diffuse. If neurones fail to leave the ventricular zone, periventricular heterotopias result. If they fail to complete their migration in the cortex this causes lissencephaly. If only a subpopulation of neurones are affected and others complete migration this causes nodular or band heterotopias.
Agyria-pachygyria (lissencephaly)There may be complete absence of gyri, in which case the terms agyria or lissencephaly (Greek: "smooth brain") are used. Pachygyria describes a reduced number of broadened and flat gyri with less folding of the cortex than normal. There may be varying degrees of agyria/pachygyria in the same brain.

Type I lissencephalyHere the brain is small with only the primary and sometimes a few secondary gyri. The cortex is thick with the white matter forming a thin rim along the ventricles. Infants with type I lissencephaly may be divided into two groups. The minority have the dysmorphic features of the Miller-Dieker syndrome associated with deletions of 17p13.3, a region which includes the LIS1 gene. The majority have the isolated lissencephaly sequence (ILS) and have no dysmorphic features. This is a heterogeneous group. More than 40% have a deletion of, or mutations within, the LIS1 gene. Mutations in a second gene on the X chromosome, doublecortin (DCX), have also been shown to cause lissencephaly.


HeterotopiasPeriventricular heterotopias are abnormal collections of neurones in the subependymal region. They may be part of a complex malformation syndrome or they may be isolated. They may be clinically silent or associated with seizures and developmental problems. Subcortical heterotopias can be divided into two groups. Nodular heterotopias of grey matter are found in association with other migration disorders and may be the cause of partial seizures. Subcortical laminar heterotopias are also known as band heterotopias or "double cortex".
Polymicrogyria (microgyria)This developmental disturbance may occur after the fifth month of pregnancy. The causes are poorly understood but may be genetic, infective or hypoxic (perhaps associated with poor cerebral perfusion). The clinical manifestations depend on the location and extent of the abnormalities. There is a bilateral perisylvian syndrome (or anterior operculum syndrome) in which bilateral opercular abnormalities are seen on magnetic resonance imaging, some of which have the appearance of polymicrogyria (fig 3). These patients have a pseudobulbar palsy with dysarthria, loss of voluntary control of the face and tongue leading to drooling and difficulty feeding. Familial occurrence has been reported.

PorencephalyThe term porencephaly is often used for any cavity in a cerebral hemisphere that commnunicates with a lateral hemisphere. However, it should probably be used only for circumscribed hemispheric necrosis that occurs in utero before the adult features of the hemisphere are fully developed. The relatively early development of these lesions is shown by their smooth walls and by associated developmental disturbances in the adjoining cortex such as polymicrogyria or distortion of the gyral pattern. This is relevant because unilateral or bilateral porencephalic cysts are found in children diagnosed as having cerebral palsy and there is often debate about the timing of the insult. Neuropathological texts debate whether or not there is a distinction between porencephaly and schizencephaly, and some cortical abnormalities do not fit neatly into any group (fig 4).
SchizencephalyThis term is used by radiologists to describe clefts which traverse the full thickness of the hemisphere, connecting the ventricle to the subarachnoid space. They are described as type I or "fused-lip" when the walls of the cleft are opposed, and type II or "open-lip" when cerebrospinal fluid separates the walls. Some of them are genetic—familial cases have been described and some sporadic cases are associated with mutations in the homeobox gene EMX2. The clefts are frequently bilateral and even when unilateral they are often combined with cortical dysplasia of the opposite hemisphere.
Epilepsy is common and sometimes the only problem is isolated partial seizures. There may be hemiplegia, quadriplegia, and learning difficulties of variable degree. If there is bilateral involvement of both opercular regions there may be facial apraxia and speech difficulties.


This is only the brain malformations part of his diagnosis. These malformations have caused him to be blind (Septo Optic Dysplasia). He cannot rollover, crawl or walk or talk. He is able to move all extremeities and CAN walk somewhat in a walker. He is able to bear weight on his feet and can kick both legs like a pro when it comes to swimming in the pool. He froggy kicks too. He recognizes some words by the way I say them. Kind of with a musical tone to it. He recognizes when we are on the road to our house by responding with a smile as soon as we turn down the gravel road to our house. He can "fall down" as in ring a round the rosies when he hears me say "We all fall down". He has "some" vision to his peripheral right and uses it a lot. We are not sure what he's seeing though. When he looks at you , he looks right into your soul. I know what he wants by his facial expressions and the sounds he makes. He has an angelic personality and has a contagious laugh and giggle and loves for you to dance with him. Holding him and dancing is like holding a soft fluffy warm teddy bear and the love just ooooooozzzzezzzzz all over the place.

It's hard to believe he is able to do all those things but no so hard to believe because he is constantly being prayed for. Keeping him active helps and watching his diet. He's only had pneumonia twice in almost three years.

Our little Odyssey will be three years old on February 18th, another miracle in itself.

So no matter how grim the prognosis, no matter what the most educated doctor says, there is always a chance. Our baby may not ever get any better and he'll probably always be our baby but that's okay with us because that's just part of the plan that we have accepted, even though there were lots of questions in the beginning.

Good Night.
Charlotte