Resources » 2012 Survey

Nervous System

Please note that many of these terms may be unfamiliar to you. This information can best and most accurately be obtained from brain MRI, CAT scan reports or neurology consultations. Check off all of the brain findings that you are confident are present in the individual with M-CM.

Question type: checkboxes, open-ended "other".

Megalencephaly (enlarged brain) 19
Brain continuously enlarging over time 14
Hemimegalencephaly (enlarged brain with one side larger than the other) 10
Hemimegalencephaly progressing over time 4
Right side of brain larger than left 7
Left side of brain larger than right 6
Cerebral cortex abnormality 6
Dilated ventricles (ventriculomegaly) 20
Venous sinus thrombosis 2
Dilated venous sinuses 3
Obstructive hydrocephalus 13
Non-obstructive hydropcephalus 7
Thin corpus callosum 2
Thick corpus callosum 8
Enlarged cerebellum 9
Cerebellum growing progressively larger over time 9
Dilated perivascular spaces 0
Frontal lobe atrophy 1
Cerebral atrophy 1
Cerebellar tonsillar herniation (acquired protrusion of cerebellar tonsils through foramen magnum) 16
Ectopic cerebellar tonsils 3
Chiari I malformation (born with protrusion of cerebellar tonsils through foramen magnum) 14
Cavum vergae 2
Cavum septum pellucidum 4
Septum pellucidum cyst 1
Choroid plexus cyst(s) 0
Cystic abnormalities in white matter 6
Delayed myelination (absence of white matter) 6
White matter hyperintensities 3
Blood vessels extending through periventricular white matter 0
Heterotopic grey matter 1
Polymicrogyria (excessive amount of folds on the brain) 11
Pachygyria (thickening of folds of the brain) 0
Poor gyral formation 1
Macrogyric convolutions 0
Wide sylvian fissures 0
Blocked blood flow in brain 0
Gliosis 2
Cerebral calcifications 0
Optic nerve hydrops (accumulation of fluid around the optic nerve) 0
Thickened optic nerves 1
Prominent optic nerve 0
Optic nerve atrophy 0
Hydromyelia (dilation of the central canal of the spinal cord) 0
Syrinyx development (cyst on spinal cord) 3
Other significant skin symptoms:
  • cyst on the cerebellum
  • fatty filum, tethered cord
  • veins larger in left side

Skull: Please select all that apply:

Question type: checkboxes, open-ended "other".

Macrocephaly 38
Abnormal head shape 23
Prominent forehead (frontal bossing) 31
Small posterior fossa 3
Craniosynostosis (premature fusing of cranial sutures) 2
Increased intracranial pressure 12
Other skull symptoms:
  • 2 mo visit head circum =39.4cm 26.6% growth percentile
  • broad forehead, wide anterior fontanelle. Mild sagittal suture diastasis.
  • Skull took 2 weeks to fuse at birth very large fontenal
  • very thick skull

Brainstem and Spinal Cord: The following are common symptoms of brainstem compression. If the individual with M-CM has experienced any of the following, please select all that apply:

Question type: checkboxes, open-ended "other".

Apnea 14
Difficulty controlling eye movements 13
Lethargy 13
Neck pain 6
Balance problems 20
Muscle weakness 26
Numbness 1
Tingling in arms or legs 1
Clonus 5
Vision problems 11
Difficulty swallowing 11
Ringing or buzzing in the ears 4
Hearing loss 0
Vomiting 6
Insomnia 6
Changes in fine motor skills 8
Depression 1
Other brainstem abnormalities:
  • ringing or buzzing in the ears, seems to have hypersensitive hearing
  • unknown due to age of patient
  • very low muscle tone, floppy limbs

Has the individual with M-CM had a sleep study?

Question type: select one, open-ended "results".

Yes 11
No 30
Unsure 0
  • mild apnea
  • no central apneas, more apneas when supine
  • severe to moderate apnea
  • severe apnea (2)
  • apnea
  • sleep apnea, tonsils and adonoids removed at 20 months

Muscle: Please select all that apply:

Question type: checkboxes, open-ended "other".

Hypotonia (low muscle tone) 35
Hypertonia (high muscle tone) 1
Hypotonia resolved after time 4
Other muscle symptoms:
  • none

If applicable, at what age did the hypotonia resolve?

Question type: open-ended.

  • under 1
  • still on going but much better over the years
  • walked at 24 months, could ride bicycle at 8 years old, still mildly hypotonic

Nervous system: Has the person with M-CM had any of the following neurological symptoms? Please select all that apply:

Question type: checkboxes, open-ended "other".

Seizures 15
Headache 6
Lethargy 11
Ischemic attacks or strokes 0
Thromboembolic events 0
Facial Nerve Palsy 2
Hemiplegia (paralysis on one side of the body) 0
Cerebral palsy 2
Regression/loss of skills 6
Poor coordination 16
Dizzy spells 1
Trouble sleeping 9
Change in appetite 3
Fatigue 7
  • ADHD extreme anxiety
  • an extremely deep sleeper, leading to bed wetting which continues until present, age 11