In infancy

Central core disease (CCD) is an autosomal dominant, non-progressive myopathy characterized by hypotonia and proximal muscle weakness in infancy. CCD is named after detection of characteristic central cores that lack both mitochondria and oxidative enzyme... 

West JR, Smith HW, Chasis H. 1948. Glomemlar filtration rate, effective renal blood flow, and maximal tubular excretory capacity in infancy. J Pediatr 32 10-18. 

Mastocytomas and diffuse cutaneous mastocytosis are further manifestations of cutaneous mastocytosis (CM) [9]. Solitary mastocytomas are common in children. Most are present at birth or develop in infancy. These lesions are flat or mildly elevated, well demarcated, solitary yellowish red-brown plaques or nodules, typically 2-5 cm in diameter. Diffuse cutaneous mastocytosis is a rare disorder characterized by diffuse mast cell infiltration of large areas of the skin that presents in infants in the first year of life. Severe edema and leathery indurations of the skin leads to accentuation of skin folds (pseudo-lichenified skin) and a peau-dbrange-like appearance. Systemic complications include hypotension and gastrointestinal hemorrhage. Infants and young children with considerable mast cell infiltration of the skin sometimes exhibit blister formation in the first 3 years of life. MPCM and other forms of CM have been classified in a consensus nomenclature (table 1) [10]. 

Another condition due to mutations in the RYRl gene is central core disease. This is a rare myopathy presenting in infancy with hypotonia and proximal muscle weakness. Electron microscopy reveals an absence of mitochondria in the center of many type I (see below) muscle fibers. Damage to mitochondria induced by high intracellular levels of Ca secondary to abnormal functioning of RYRl appears to be responsible for the morphologic findings. 

STROM B L, SCHINNAR R, ZIEGLER E E, BARNHART K T, SAMMEL M D, MACONES G A, STALLINGS V A, DRULis j M, NELSON s E, HANSON s A (2001) Exposure to soy-based formula in infancy and endocrinological and reproductive outcomes in young adulthood. JAMA. 286 807-14. 

Kleinhaus, S., Weinberg, G. and Gregor, M.B. (1992). Necrotizing enterocolitis in infancy. Surg. Clin. North Am. 72, 261-276. 

Genetic factors cannot explain the recent rapid rise in asthma prevalence. Asthma appears to require both genetic predisposition and environmental exposure. Many patients with occupational asthma develop the disease late in life upon exposure to specific allergens in the workplace. Environmental influences in utero or in infancy may contribute to the development of asthma. Maternal smoking during pregnancy or exposure to secondhand smoke after birth increases the risk of childhood asthma.3 Adult-onset asthma is not uncommon and may be related to atopy, nasal polyps, aspirin sensitivity, occupational exposure, or a recurrence of childhood asthma. 

L. Linday, J. Dobkin, and T. Wang, Digoxin inactivation by the gut flora in infancy and childhood, Pediatrics, 544 (1987). 

O. Carrier, G. Pons, E. Rey, M. Richard, C. Moran, J. Badoual, and G. Olive, Maturation of caffeine metabolic pathways in infancy, Clin, Pharmacol. Ther, 44, 145 (1988). 

Tildon, J. T. and Cornblath, M. Succinyl-CoA 3-ketoacid CoA-transferase deficiency. A cause for ketoacidosis in infancy. /. Clin. Invest. 51 493 98,1972. 

An aminoaciduria usually results from the congenital absence of an enzyme needed for metabolism of an amino acid. Aminoacidopathies typically involve an inherited deficiency of an enzyme that is important for the metabolism of a particular amino acid (Table 40-1). The concentration of that amino acid and its metabolites consequently rise sharply in blood, urine and body tissues, including the brain. When the enzymatic deficiency is nearly complete, the onset of disease tends to occur in infancy, even in the neonatal period. Partial enzyme deficiencies may not become apparent until later in life [1,2]. 

Typically fatal in infancy. Profound developmental delay in rare surviving infant... 

The neuronal ceroid lipofuscinoses (CLN), also referred to as Batten s disease, are a group of disorders characterized by the accumulation of autofluorescent lipopigments. Clinical hallmarks include blindness, seizures, cognitive and motor decline and early death. Age of onset varies from infancy to adulthood. Eight genetic forms have been identified [4]. Two involve lysosomal acid hydrolases. CLN1 codes for palmitoyl protein thioesterase 1. Clinically it presents most often in infancy and leads to loss of active movement and visual contact by 3 years of age. It is most common in Finland, where its incidence is 1 20,000. CLN2 codes for a lysosomal pepstatin-insensitive acid protease. 

The childhood- and adult-onset forms of AMD cause signs and symptoms that are limited to the musculature, with progressive weakness of truncal muscles and of proximal, more than distal, limb muscles, usually sparing facial and extraocular muscles. In the childhood form, onset is in infancy or childhood and progression tends to be rapid. In the adult form, onset is usually in the third or fourth decade but occasionally even later and the course is slower [7]. 

Defects of the Krebs cycle. Fumarase deficiency was reported in children with mitochondrial encephalomyop-athy. Usually, there is developmental delay since early infancy, microcephaly, hypotonia and cerebral atrophy, with death in infancy or early childhood. The laboratory hallmark of the disease is the excretion of large amounts of fumaric acid and, to a lesser extent, succinic acid in the urine. The enzyme defect has been found in muscle, liver and cultured skin fibroblasts [16]. 

In this review, we focus on ALS, particularly its genetic variants, and relevant model systems with the belief that understanding these inherited illnesses will help to clarify the mechanisms of the more common sporadic forms of MND. SMA, a major cause of MND in infancy and childhood, is beyond the scope of this chapter and is the subject of several recent reviews [4, 8,27]. 

In many countries, nickel is the commonest sensitizer in women, causing nickel allergy incidence to be high in a series of reported patch tests [399,400]. Since 1930, the emphasis has shifted from sensitization at work to sensitization in the home by nickel-plated metal and objects made of nickel alloy. The age of onset has altered to teenagers and young women and the source is now cheap metal jewellery and fasteners on clothing such as jeans studs. Also sensitization in infancy has been reported. Nickel-sensitive patients do not... 

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