Pompe disease is caused by mutations in the GAA gene that result in insufficient acid α-glucosidase (GAA) production and the accumulation of glycogen within the lysosomes of affected tissues. 1 Infantile-onset Pompe disease presents at <1 year of age with musculoskeletal weakness, cardiomegaly, and progressive respiratory insufficiency.
Dominant mutations in KCNT1 were recently reported to cause autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) (29), malignant migrating partial seizures of infancy (MMPSI) (30, 31) and infantile spasms (32).
To define the maturational sequence of 3 infantile intraocular medulloepitheliomas.
We describe the 9 infantile (aged 3 mo and younger) and 4 congenital cases previously reported and summarize their clinical presentation and outcome.
The mass is iso-intense to grey matter on the T1-W view (b) and enhances post-contrast (c) Open image in new window Fig. 8 Infantile fibrosarcoma.
We report the case of a neonate with cervical esophageal duplication cyst at birth and describe the features of infantile cervical esophageal duplication cysts along with 19 infantile case reports.
The truth is, as a woman with a very visible disability, society at large puts me in one of these boxes: 1) asexual; 2) infantile; 3) dependent and needy; 4) desperate.
The disease has three clinical variants: Type 1 is primarily a visceral and nonneuropathic disease whereas types 2 and 3 are a continuum of neuronopathic and visceral diseases ranging from acute (type 2, infantile) to subacute (type 3) progressive CNS degenerative diseases [1], [2].
It has been reported in disseminated neuroblastoma [ 26], nephroblastoma [ 27], infantile fibrosarcoma [ 28] and multi-system Langerhans cell histiocytosis [ 29].
The RAutoreg values range from a high of 0.95 (bronchiolitis) to a low of 0.11 (infantile cataract).
Renal disease consisted of idiopathic membranous nephropathy (n = 13), focal segmental glomerulosclerosis (n = 3), infantile nephropathic cystinosis (n = 7), or other causes (n = 7).
