At present, patient 1 presents a severe phenotype and receives anti-epileptic medication, weekly physiotherapy, and assisted therapy, as well. [ncbi.nlm.nih.gov]

• Failure to Thrive

  […] to thrive ++ + Diarrhea/vomiting − ++ Hypoalbuminemia − ++ Cardiomyopathy − − Cystic kidney disease − nd Hypotonia Axial Axial Muscle weakness, CK levels + CK: normal ++ CK: nd Coagulation anomalies: prothrombin (PT) and Kaolin partial thromboplastin [ncbi.nlm.nih.gov]

• Vomiting

  Patient 2 was born with a severe phenotype consisting of liver involvement (hepatomegaly, hypoalbuminemia, protein-losing enteropathy, recurrent vomiting, and diarrhea), seizures, progressive developmental delay, and coagulation abnormalities with recurrent [ncbi.nlm.nih.gov]

• Psychomotor Retardation

  She showed psychomotor retardation, feeding problems, hepatomegaly and ophthalmological abnormalities (strabismus and cataract). [ncbi.nlm.nih.gov]

• Stroke

  […] at 4 months Table 1 Overview of the clinical symptoms observed in two siblings CDG-Ix Clinical symptoms Patient 1 (11 years old) Patient 2 early death (at 4 months) Psychomotor retardation +++ +++ Cerebellar atrophy – nd Seizures +++ (refractory) + Stroke [ncbi.nlm.nih.gov]

• Seizure

  Their clinical picture involved liver dysfunction in the neonatal period, psychomotor retardation, microcephaly, seizures, axial hypotonia, feeding difficulties, and hepatomegaly. Patient 1 also developed strabismus and cataract. [ncbi.nlm.nih.gov]

IEF of serum Tf after neuraminidase treatment showed only one band excluding a Tf protein variant. The abnormal Tf-IEF pattern was confirmed by HPLC and MALDI-TOF MS in patient 1. [ncbi.nlm.nih.gov]