... resulting convulsions, anemia, thrombocytopenia, visual impairment, and/or CNS involvement (see Table 1 ). Table 1. Diagnostic Features of the Subtypes of CLCN7 -Related Osteopetrosis View in own window Finding Subtype of CLCN7 -Related ... rare CNS involvement Severe to absent Absent Absent Age of onset ...

... nervous system, bony, hematologic, and other clinical findings. Table 1. Gaucher Disease: Clinical Subtypes View in own window Age Subtype Primary CNS Involvement Bone Disease 1 Other Adult Type 1 No ...

... death within seven to 15 years after onset. Table 2. Clinical Manifestations of AMRF View in own window Disease Onset Major Manifestations CNS Involvement Renal Disease Other Possible Manifestations Juvenile PME and ...

... be given the contact details of their CNS ( Table 6 ). There were pronounced differences in views between those patients with a CNS and those without one in terms of verbal and written information, involvement, information on financial support and prescriptions, discharge information, ...

... following: Bone marrow and CNS: Bone marrow and CNS involvement at diagnosis usually requires more intensive therapy.[ 19 , ... of 90%.[ 19 , 28 , 32 ] The combination of CNS involvement and bone marrow disease appears to impact outcome ...

... sentinel node biopsy, is still classified as clinical (cN). Table 3. Definition of Regional Lymph Nodes – Clinical (cN) a,b View in own window cN Category ...

... complication particularly in the later stages of disease. CNS involvement can also contribute to sleep apnea. The voice ... a result of obstructive airway disease and possibly CNS involvement occurs in attenuated MPS I. Gastrointestinal system. Hernias ...

... SPG2 manifests as spastic paraparesis with or without CNS involvement and usually normal life span. Intrafamilial variation of ... spasticity and ataxia Spastic paraparesis with or without CNS involvement Spastic urinary bladder Imaging features Magnetic resonance imaging ( ...

... appropriate assessment of development and behavior Evaluation of CNS involvement Blood pressure and serum creatinine concentration Urinalysis, serum ... Oral-Facial-Digital Type I. (OFD1) Collaborative Group. CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging ...