The one affected individual described had hypotonia, intractable seizures, developmental delay, and microcephaly.
MIC-CAP syndrome, diagnosed at or shortly after birth, is characterized by severe microcephaly (a condition in which an infant's head is significantly smaller than the heads of other children of the same age and sex) with progressive cortical atrophy, intractable epilepsy, profound developmental delay, and excessive small capillary malformations on the skin.
Second, a majority of children with A.S. are afflicted with epilepsy, often intractable, and commonly have delayed motor development that impairs or prevents walking, standing or even unsupported sitting.
Patients with these two types of defective lesions present with severe developmental delays and intractable epilepsy [ 3].
Rare mutations identified in DPAGT1 have been found to underlie a severe multisystems disorder [CDG1J (MIM 608093)] typically with delayed development, microcephaly, intractable seizures and learning difficulties (Marek et al., 1999; Wu et al., 2003; Wurde et al., 2012).
Mutations in the CDKL5 (cyclin-dependent kinase-like 5) gene are associated with a severe epileptic encephalopathy (early infantile epileptic encephalopathy type 2, EIEE2) characterized by early-onset intractable seizures, infantile spasms, severe developmental delay, intellectual disability, and Rett syndrome (RTT -like featuRTT -like
On the other hand, persistent or secondary infection of pancreatic necrosis in conservatively treated patients is of particular concern because potentially delayed treatment may lead to intractable sepsis with resultant mortality.
The patient presented at 6 months of age with developmental delay, followed by the onset of intractable, focal, and generalized seizures associated with developmental regression from 10 months of age.
Despite recent improvements in fracture management, delayed union and nonunion remain as intractable complications following surgical reduction and fixation of long-bone fractures.
In this notion, the problem of understanding delay in an information- theoretic setting remains intractable, since n → ∞ makes all talk of per-bit delay irrelevant.
