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2,449 Possible Causes for Cerebellar Hypoplasia, MRI Scan of the Brain Abnormal, Muscle Biopsy Shows Dystrophic Changes

  • Congenital Merosin-Positive Muscular Dystrophy

    Muscle biopsy showed dystrophic changes with absent staining for merosin.[pediatricneurosciences.com] The second child, a 3-year-old ambulant girl with subtle learning problems, had mild cerebellar hypoplasia and a large subarachnoid space when scanned at 16 months.[ncbi.nlm.nih.gov] MRI scans show white matter changes; the children affected have normal intelligence unless there is there is a structural brain abnormality - this can happen in a small percentage[disabled-world.com]

  • Congenital Muscular Dystrophy

    Serum creatine kinase was elevated, muscle biopsy showed dystrophic changes, and there were abnormalities in brain MRI.[ncbi.nlm.nih.gov] […] atrophy [4] severe cerebellar hypoplasia, poor muscle tone, delayed in motor milestones, lack of coordination in motive skills, difficulty speaking, involuntary movements[en.wikipedia.org] MRI scans show white matter changes; the children affected have normal intelligence unless there is there is a structural brain abnormality - this can happen in a small percentage[disabled-world.com]

  • Muscular Dystrophy-Dystroglycanopathy Type B5

    Cranial magnetic resonance imaging showed cerebellar cysts and hypoplasia of the vermis and muscle biopsy showed dystrophic changes.[cags.org.ae] […] brainstem hypoplasia and more extensive cerebellar dysplasia or hypoplasia.[jamanetwork.com] Brain MRI scans were performed in 12 out of 20 patients and showed no abnormalities. Pulmonary function and cardiac ultrasound were carried out in all patients.[jmg.bmj.com]

  • Muscular Dystrophy-Dystroglycanopathy Type C5

    hypoplasia; LGMD2V GAA / Acid maltase (late-onset Pompe variant) Late childhood to early adulthood Variable Variable Rigid spine; distal contractures; scapular wining Ptosis[now.aapmr.org] Brain CT scans of two affected individuals showed no abnormalities; MRI studies were not carried out.[nature.com] Brain MRI scans were performed in 12 out of 20 patients and showed no abnormalities. Pulmonary function and cardiac ultrasound were carried out in all patients.[jmg.bmj.com]

  • Congenital Muscular Dystrophy with Integrin Alpha-7 Deficiency

    Muscle biopsy showed dystrophic changes, substantial fatty replacement, and fiber size variation.[link.springer.com] […] atrophy [2] severe cerebellar hypoplasia, poor muscle tone, delayed in motor milestones, lack of coordination in motive skills, difficulty speaking, involuntary movements[ipfs.io] MRI scans show white matter changes; the children affected have normal intelligence unless there is there is a structural brain abnormality - this can happen in a small percentage[disabled-world.com]

  • Dandy-Walker Syndrome

    hypoplasia, hydrocephalus, and posterior fossa cyst formation.[medical-dictionary.thefreedictionary.com] Images will be taken of your child's brain. This can be done with: CT scan MRI scan Ultrasound Treatment Dandy-Walker syndrome cannot be cured.[winchesterhospital.org] […] growths in the brain Imaging studies to be performed may include: X-rays of the skull to check for skull enlargement CT and MRI scan to measure the size and shape of the[dovemed.com]

    Missing: Muscle Biopsy Shows Dystrophic Changes
  • Limb-Girdle Muscular Dystrophy Type 2J

    Dystrophies are a group of non-inflammatory hereditary conditions which show dystrophic changes (increased connective tissue, fiber splitting) on biopsy without degeneration[lecturio.com] hypoplasia Lissencephaly with cerebellar hypoplasia type A Lissencephaly with cerebellar hypoplasia type B Lissencephaly with cerebellar hypoplasia type C Lissencephaly with[se-atlas.de] hypoplasia; LGMD2V GAA / Acid maltase (late-onset Pompe variant) Late childhood to early adulthood Variable Variable Rigid spine; distal contractures; scapular wining Ptosis[now.aapmr.org]

    Missing: MRI Scan of the Brain Abnormal
  • Muscular Dystrophy-Dystroglycanopathy Type C1

    Note the rough cobblestone brain surface, the cerebellar hypoplasia ( arrow ), and the abnormal vasculature.[ncbi.nlm.nih.gov] The brain manifests cobblestone lissencephaly with agenesis of the corpus callosum, cerebellar hypoplasia, hydrocephaly, and sometimes encephalocele ( fig. 1 ).[ncbi.nlm.nih.gov] Hypoplasia of the cerebellar vermis was seen in the posterior cranial fossa. Ophthalmological examination showed buphthalmos, retinal dysplasia, and lens opacities.[ncbi.nlm.nih.gov]

    Missing: MRI Scan of the Brain Abnormal
  • Arnold Chiari Malformation

    Type IV is a form a cerebellar hypoplasia.[hon.ch] MRI will show the abnormal CSF flow and configuration and position of the brain and spinal cord [6] .[physio-pedia.com] […] structures Hydrocephalus in 50% of cases due to obstruction Chiari IV (very rare) Primary cerebellar hypoplasia or agenesis Epidemiology Prevalence True incidence is estimated[unboundmedicine.com]

    Missing: Muscle Biopsy Shows Dystrophic Changes
  • Congenital Muscular Dystrophy Type 1A

    Muscle biopsy showed dystrophic changes with absent staining for merosin.[pediatricneurosciences.com] […] atrophy [4] severe cerebellar hypoplasia, poor muscle tone, delayed in motor milestones, lack of coordination in motive skills, difficulty speaking, involuntary movements[en.wikipedia.org] His echocardiogram showed normal findings [Figure 2]. His serum CPK level was 2120 U/l and MRI of the brain showed similar findings with other patients.[pediatricneurosciences.com]

    Missing: MRI Scan of the Brain Abnormal

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