ICD 10NA Congenital malformation

Q00 Q00 Anencephaly and similar malformationAnencephaly and similar malformation

Q01Q01 EncephaloceleEncephalocele

Q02Q02 MicrocephalyMicrocephaly

Q03Q03 Congenital hydrocephalusCongenital hydrocephalus

Q04Q04 Other congenital malformations of brainOther congenital malformations of brain

Q05Q05 Spina bifidaSpina bifida

Q06Q06 Other congenital malformations of spinal cordOther congenital malformations of spinal cord

Q07Q07 Other congenital malformations of nervous systemOther congenital malformations of nervous system

Neural Tube Defect

                                                   flatplate

stage               deepening

neural groove  neural folds in

apposition neural tube

formed

In the normal human embryo, the neural plate arises approximately 18 days after fertilization (fig 2 and 3).• During the fourth week of development, the neural plate invaginates along the embryonic midline to form the neural groove.•The neural tube is formed as closure of the neural groove proceeds from the middle of the groove and progresses toward the ends in both directions, with completion between day 24 for the cranial end and day 26 for the caudal end (fig. 4).• Disruptions of the normal closure process give rise to NTDs. •Anencephaly results from failure of neural tube closure at the cranial end of the developing embryo. Absence of the brain and calvaria may be partial or complete.

Neural tube defects

AnteriorAnterior AnencephalyAnencephaly EncephaloceleEncephalocele

PosteriorPosterior Spina bifidaSpina bifida

Q00 Anencephaly and similar malformation

Q00.0Q00.0 AnencephalyAnencephaly00.0000.00 AcraniaAcraniaQ00.01Q00.01 AcephalyAcephalyQ00.02Q00.02 Atelencephaly clausaAtelencephaly clausaQ00.03Q00.03 Atelencephaly apartaAtelencephaly apartaQ00.04Q00.04 HemicephalyHemicephalyQ00.05Q00.05 HemianencephalyHemianencephalyQ00.06Q00.06 AmyelencephalyAmyelencephaly00.0700.07 HydrencephalyHydrencephaly00.0800.08 Other anencephalyOther anencephaly

Q00.1Q00.1 CraniorachischisisCraniorachischisisQ00.2Q00.2 IniencephalyIniencephaly

Q00.20Q00.20 Iniencephaly clausaIniencephaly clausaQ00.21IQ00.21I niencephaly apertaniencephaly aperta

Q00.0 Anencephaly A neural tube defect (NTD)A neural tube defect (NTD) The brain and cranial vault are grossly malformed. The brain and cranial vault are grossly malformed. A major portion of the brain is reduced or absent, but A major portion of the brain is reduced or absent, but

the hindbrain is present.the hindbrain is present. Facial structures are generally present and appear Facial structures are generally present and appear

relatively normal (fig. 1). relatively normal (fig. 1). The cranial lesion is occasionally covered by skin, The cranial lesion is occasionally covered by skin,

but, usually, it is not. but, usually, it is not. This defect results when the neural tube fails to close This defect results when the neural tube fails to close

during the third to fourth weeks of development, during the third to fourth weeks of development, leading to fetal loss, stillbirth, or neonatal death. leading to fetal loss, stillbirth, or neonatal death.

Anencephaly, like other forms of NTDs, generally Anencephaly, like other forms of NTDs, generally follows a multifactorial pattern of transmission, with follows a multifactorial pattern of transmission, with interaction of multiple genes as well as interaction of multiple genes as well as environmental factors. environmental factors.

Anencephaly can be detected prenatally through Anencephaly can be detected prenatally through maternal serum alpha-fetoprotein screening or maternal serum alpha-fetoprotein screening or ultrasound imaging.ultrasound imaging.

Folic acid has been shown to be an efficacious Folic acid has been shown to be an efficacious preventive agent that reduces the potential risk of preventive agent that reduces the potential risk of anencephaly and other NTDs by approximately two anencephaly and other NTDs by approximately two thirds.thirds.

Anencephaly

Anencephaly

                                                            

                          Figure 1 

                                                            

                          Figure 2

 

                                                            

                         Figure 3

                                                            

                          Figure 4

Q00.01 Acrania

Q01Encephalocele

Q01.xx0 Encephalomyelocele, Q01.xx0 Encephalomyelocele,

Q01.xx1 Hydroencephalocele, Q01.xx1 Hydroencephalocele,

Q01.xx2 Hydromeningocele, Q01.xx2 Hydromeningocele,

cranial,cranial,

Q01.xx3 Meningocele , cerebral, Q01.xx3 Meningocele , cerebral,

Q01.xx4 MeningoencephaloceleQ01.xx4 Meningoencephalocele

Q01.0Frontal encephaloceleQ01.0Frontal encephalocele

01.1Nasofrontal encephalocele01.1Nasofrontal encephalocele

01.2Occipital encephalocele01.2Occipital encephalocele

Q01.8Encephalocele of other sitesQ01.8Encephalocele of other sites

Q01.80Parietal encephaloceleQ01.80Parietal encephalocele Q01.81Nasopharyngeal Q01.81Nasopharyngeal

encephaloceleencephalocele Q01.82Temporal encephaloceleQ01.82Temporal encephalocele Q01.83Orbital encephaloceleQ01.83Orbital encephalocele

Q01.9Encephalocele, unspecifiedQ01.9Encephalocele, unspecified

Q05Spina bifida Q05.x0 Hydromeningocele, spinalQ05.x0 Hydromeningocele, spinal Q05.x1 LipomeningoceleQ05.x1 Lipomeningocele Q05.x2 MeningomyeloceleQ05.x2 Meningomyelocele Q05.x3 MyeloceleQ05.x3 Myelocele Q05.x4 MyelomeningoceleQ05.x4 Myelomeningocele Q05.x5 RachischisisQ05.x5 Rachischisis Q05.x6 Spina bifidaQ05.x6 Spina bifida Q05.x7 SyringomyeloceleQ05.x7 Syringomyelocele

Q05.0 Cervical spina bifida with Q05.0 Cervical spina bifida with hydrocephalushydrocephalus

05.1Thoracic spina bifida with 05.1Thoracic spina bifida with hydrocephalushydrocephalus

Q05.2Lumbar spina bifida with Q05.2Lumbar spina bifida with hydrocephalus Lumbosacral spina bifida with hydrocephalus Lumbosacral spina bifida with hydrocephalushydrocephalus

Q05.3Sacral spina bifida with hydrocephalusQ05.3Sacral spina bifida with hydrocephalus Q05.4Unspecified spina bifida with Q05.4Unspecified spina bifida with

hydrocephalushydrocephalus 05.5Cervical spina bifida without 05.5Cervical spina bifida without

hydrocephalushydrocephalus Q05.6Thoracic spina bifida without Q05.6Thoracic spina bifida without

hydrocephalushydrocephalus Q05.7Lumbar spina bifida without Q05.7Lumbar spina bifida without

hydrocephalushydrocephalus Q05.8Sacral spina bifida without Q05.8Sacral spina bifida without

hydrocephalushydrocephalus Q05.9Spina bifida, unspecifiedQ05.9Spina bifida, unspecified

Q06Other congenital malformations of spinal cord Q06.0AmyeliaQ06.0Amyelia 06.1Hypoplasia and dysplasia of spinal cord06.1Hypoplasia and dysplasia of spinal cord 06.2Diastematomyelia06.2Diastematomyelia Q06.3Other congenital cauda equina malformationsQ06.3Other congenital cauda equina malformations Q06.4HydromyeliaQ06.4Hydromyelia Q06.8Other specified congenital malformations of spinal Q06.8Other specified congenital malformations of spinal

cordcord Q06.80DiplomyeliaQ06.80Diplomyelia Q06.81Tethered spinal cordQ06.81Tethered spinal cord

Q06.9Congenital malformation of spinal cord, unspecifiedQ06.9Congenital malformation of spinal cord, unspecified

Q07.0Arnold-Chiari syndrome

Q07.00Chiari malformation, type IQ07.00Chiari malformation, type I

Q07.01Chiari malformation, type IIQ07.01Chiari malformation, type II

Q07.02Chiari malformation, type IIIQ07.02Chiari malformation, type III

Q04.3Other reduction deformities of brain

Q04.30Q04.30 AgyriaAgyria

Q04.31Q04.31 LissencephalyLissencephaly

Q04.32Q04.32 MicrogyriaMicrogyria

Q04.33Q04.33 PachygyriaPachygyria

Q04.34Q04.34 Agenesis of part of brain, Agenesis of part of brain, unspecifiedunspecified

Migrational anomaly

LissencephalyLissencephaly Complete- Agyria (type I)Complete- Agyria (type I) Incomplete – Pachygyria (type II)Incomplete – Pachygyria (type II)

Microgyria (Polymicrogyria)Microgyria (Polymicrogyria) HetrerotopiaHetrerotopia

Periventricular hetrotopiaPeriventricular hetrotopia Subcortical band hetrotopiaSubcortical band hetrotopia Focal cortical dysplasiaFocal cortical dysplasia

Agyria (Lissencephaly type I)

Lissencephaly

Lissencephaly and DCX Syd. MRI images of cerebral cortex in a MRI images of cerebral cortex in a

normal human being (Normal), normal human being (Normal), a patient with a patient with LIS1LIS1 mutation (LIS1), mutation (LIS1), a female patient with a female patient with DCXDCX mutation mutation

(DCX-Female) and (DCX-Female) and a male patient with a male patient with DCXDCX mutation mutation

(DCX-Male). (DCX-Male).

Notice that patients with mutations Notice that patients with mutations in in LIS1LIS1 and male and male DCXDCX patients show patients show strikingly similar lissencephalies, strikingly similar lissencephalies, whereas female patients with whereas female patients with DCXDCX mutations present with 'double mutations present with 'double cortex' syndrome, in which a band cortex' syndrome, in which a band of grey matter is embedded within of grey matter is embedded within the white matter beneath the the white matter beneath the normal cortex. normal cortex.

Incomplete lissencephaly

Agyria-pachygyria-band spectrum, grade 2

Sagittal T1-weighted image (A) shows hypoplastic corpus callosum (arrows). The splenium is not bulbous; the genu and rostrum are not well seen. The telencephalic brain appears smooth and poorly sulcated, although this can be difficult to discern on midline sagittal images. Axial T1-weighted image (B) confirms the smooth lissencephalic brain; note the very primitive sulcation limited to the frontal region (arrows). A more cephalad axial T2-weighted image (C) shows primitive, enlarged ventricles, figure-8 shaped lissencephalic brain, and hyperintense cell-sparse layer

A B C

Agyria-pachygyria-band spectrum, grade 3

Sagittal T1-weighted MPRage image (D) shows smooth, broad gyri typical of pachygyria. Axial T1-weighted image (E) also shows pachygyria which is more severe over the posterior than anterior regions. Also note the mildly enlarged ventricles with rounded margins. The abnormal hypointense foci along the periatrial margins are atypical, and their significance is not clear. Axial T2-weighted image (F) shows similar changes.

D E F

Agyria-pachygyria-band spectrum, grade 5

Coronal T1-weighted MPRage image (G) shows bilateral undulating bands of abnormal gray matter (arrows) in the subcortical region. Note the normal olfactory sulci. Coronal proton density-weighted image at the same location (H) also shows bands of heterotopic gray matter (arrows). Further posteriorly, coronal MPRage image (I) again shows bands. However, the bands terminate superiorly in frank pachygyria (short arrows). Also note the subtle additional heterotopia (long arrows) deep to the band along the ventricles which are occasionally seen in subcortical band heterotopia.

G H I

Agyria-pachygyria-band spectrum, grade 6

Axial T2-weighted image (J) shows typical subcortical band heterotopia deep to the overlying cortex. The signal intensity parallels gray matter. The ventricles are slightly enlarged and rounded. Slightly more cephalad, axial proton density-weighted (K) and T2-weighted (L) images show similar changes. The bands have the signal intensity of gray matter (K, arrows). The inner margin of the bands are usually smooth, as in this case. The outer margins may be smooth or may undulate with fingers of subcortical white matter, as in this case. The overlying cortex may be radiographically normal or pachygyric

J L K

Polymicrogyria

the surface of the cerebral hemispheres shows multiple small bumps, suggesting an excessive number of gyri. The cortex   is thick and consists of the molecular and one other broad neuronal layer (in some cases there are three poorly defined neuronal layers). These layers are irregularly overfolded and  fused, eliminating the sulci. Patients with polymicrogyria have severe

psychomotor retardation and seizures.

Polymicrogyria

The cortex to be thrown The cortex to be thrown into numerous small gyri into numerous small gyri characteristic of characteristic of polymicrogyria. polymicrogyria.

The enlarged ventricles The enlarged ventricles and small size of the white and small size of the white matter. matter.

These patients are usually These patients are usually retarded and may have retarded and may have seizures or other seizures or other neurologic findings. neurologic findings.

Focal Cortical Dysplasia

A focally thickened cortex with a A focally thickened cortex with a disordered cytoarchitecture, large disordered cytoarchitecture, large abnormally oriented neurons and abnormally oriented neurons and hypertrophic astrocytes. hypertrophic astrocytes. 

Such lesions are often seen in Such lesions are often seen in specimens resected for epilepsy.  specimens resected for epilepsy. 

The lesion is thought to represent a The lesion is thought to represent a focal abnormality of neuronal focal abnormality of neuronal migration and differentiation.  migration and differentiation. 

It resembles the cortical lesions of It resembles the cortical lesions of tuberous sclerosis. tuberous sclerosis.

Q04.8 Other specified congenital malformations of brain Q04.80 MacrogyriaQ04.80 Macrogyria Q04.81 UlegyriaQ04.81 Ulegyria Q04.82 Agenesis of septum pellucidumQ04.82 Agenesis of septum pellucidum Q04.83 CopocephalyQ04.83 Copocephaly Q04.84 Diorders of neuronal migrationQ04.84 Diorders of neuronal migration

Q04.840Cortical lamination abnormalityQ04.840Cortical lamination abnormality Q04.841Neuronal hetrotopiaQ04.841Neuronal hetrotopia

Band heterotopia (double cortex)

Band heterotopia, a. MR IR TSE coronal image,

a continuous, bilateral band of grey matter interposed between the ventricles and the cortex.

The laminar-shaped heterotopic grey matter parallels the signal of the normal cortex in all imaging sequences and seems a "double cortex".    

Band heterotopia (double cortex)

 

a, b. MR, T1- and T2-weighted images. A very thick cortex, with two layers separated by a very thin strand of white matter (double cortex) is seen bilaterally. c, d. Coronal images show the same pattern, and absence of digitations of the white matter leading towards the cortical convolutions.

A B C D

Cortical Hetrotopia

Subependymal Hetrotopia

Misplaced neurons Misplaced neurons are arranged in a are arranged in a separate layer separate layer between the cortex between the cortex and the ventriclesand the ventricles

Patients with SBH Patients with SBH have psychomotor have psychomotor retardation, seizures retardation, seizures and behavior and behavior problemsproblems

Periventricular Nodular Hetrotopia

unorganized islands of unorganized islands of neurons under the neurons under the ependyma of the lateral ependyma of the lateral ventricles and may coexist ventricles and may coexist with other migration with other migration defects. defects.

These neurons presumably These neurons presumably failed to migrate and failed to migrate and differentiated in their differentiated in their original positions. original positions.

Patients with PH have Patients with PH have normal intelligence and normal intelligence and seizures. seizures.