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990 Possible Causes for Neonatal Hypotonia, Nystagmus

  • Pelizaeus-Merzbacher Disease

    Two brothers with profound neonatal hypotonia and hyporeflexia and electrodiagnostic testing consistent with lower motor neuron pathology were found to have a leukodystrophy[] […] in two patients in whom the waveform of the nystagmus was not obvious on inspection.[] In severe cases, the neonatal hypotonia may resemble spinal muscular atrophy but over 90% of cases develop spasticity, although possibly not until the second year of life.[]

  • Down Syndrome

    . • Nystagmus - This is an involuntary “back-and-forth”movement or shaking of the eyes. It can affect vision to a mild or severe degree.[]

  • Oculocerebrorenal Syndrome

    Neonatal hypotonia can contribute to feeding difficulties, problems with breathing, and delayed development of motor skills (i.e. sitting, standing, and walking).[] Despite this, visual acuity results will only rarely be better than 20/70, and nystagmus is likely.[] -ˌser-ə-brō- \ : a rare human developmental disorder that is inherited as an X-linked recessive trait and that is marked by congenital cataracts, glaucoma, and abnormal nystagmus[]

  • Mitochondrial DNA Depletion Syndrome

    Mitochondrial DNA depletion syndrome-8A is a severe autosomal recessive disorder characterized by neonatal hypotonia, lactic acidosis, and neurologic deterioration.[] Clinical features included liver failure, hypotonia, and nystagmus in 2 siblings, and liver cirrhosis, optic dysplasia, nystagmus, and microcephaly in the third patient.[] Mutations in RRM2B usually result in neonatal hypotonia, lactic acidosis, failure to thrive and tubulopathy.[]

  • Hereditary Spastic Paraplegia

    Vibratory stimuli decreased the nystagmus mostly in the left but not in the right eye.[] SPG52 AP4S1 14q12 AP4S1 Complicated: neonatal hypotonia that progresses to hypertonia. Dysmorphic features.[] The patients showed nystagmus during infancy and had early onset of HSP.[]

  • Dysequilibrium Syndrome

    A peculiar clinical presentation characterized by the triad of opsoclonus,myoclonus and ataxia, mainly in a form of dysequilibrium, is usually associated with infectious or paraneoplastic processes. Serial cerebrospinal fluid (CSF) analysis in two patients with opsoclonus-myoclonus-dysequilibrium syndrome suggestive of[…][]

  • Tay-Sachs Disease

    This first child of non-Jewish parents had nystagmus at 4 months of age, bilateral cherry-red macular spots at 7 months of age, and hyperacusis at 8 months of age; the patient[]

  • Motor Neuron Disease

    SMA1 must be distinguished from other causes of neonatal hypotonia which include CNS malformations, metabolic diseases, infections, and congenital myopathies.[] To describe the core clinical features of a syndrome of MND associated with downbeat nystagmus, clinical features were collected from 6 patients.[] Because finger extension weakness and downbeat nystagmus are the discriminating clinical features of this MND, we propose the name FEWDON-MND syndrome.[]

  • Neonatal Seizures

    Neonatal hypotonia, seizures beginning at 5 days, and severe retardation were noted in a girl with normal karyotype and biochemical evidence of impaired adrenal function.[] Subtle attacks are characterized by apneas with cyanosis or hypertonia, episodes of pallor, fixed staring, conjugate eye deviation, finger movements, paroxysmal eye blinking, nystagmus[] Symptoms of subtle seizures include horizontal deviation of the eyes with or without jerking (also known as nystagmus), abnormal posturing of the body (with arms and legs[]

  • Angelman Syndrome

    This lack of pigment in the eye may cause sensitivity to light (photophobia), rapid, involuntary eye movements (nystagmus) and decreased clarity of vision (visual acuity).[] Characteristics of Prader-Willi Syndrome (PWS): Neonatal hypotonia, hyperphagia, obesity, global developmental delay, mild intellectual disability, hypogonadism, and a distinctive[] The main PWS typical features in our patient are neonatal hypotonia and hyperfagia with obesity.[]

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