From: A retrospective review of the contribution of rare diseases to paediatric mortality in Ireland
Neonatal (0–28 days) | Post-neonatal (29 days < 1 year) | Children (1–14 years) | Total | |
---|---|---|---|---|
CATEGORY | Number of cases (%) | Number of cases (%) | Number of cases (%) | |
Rare disease | (n) | (n) | (n) | |
BIRTH DEFECTS | 588 [51.58%] | 147 [32.67%] | 93 [11.95%] | 828 |
Rare development defect during embryogenesis | ||||
Anencephaly | (93) | (< 5) | – | |
Multiple congenital anomalies | (73) | (11) | – | |
Renal agenesis | (52) | – | – | |
Congenital diaphragmatic hernia | (38) | (10) | (< 5) | |
Hydrops fetalis | (13) | – | – | |
Holoprosencephaly | (11) | (< 5) | (< 5) | |
Omphalocele | (9) | – | – | |
VACTERL/VATER association | (8) | – | (< 5) | |
Esophageal atresia | (8) | (< 5) | – | |
Spina bifida | (8) | (< 5) | (7) | |
Congenital hydrocephalus | (6) | (< 5) | (5) | |
Renal hypoplasia | (5) | – | (< 5) | |
Other defect during embryogenesis | (116) | (28) | (4) | |
Rare congenital heart malformations | ||||
Hypoplastic left heart | (67) | (22) | (7) | |
Tetralogy of fallot | (6) | (< 5) | (< 5) | |
Truncus arteriosus | (5) | (< 5) | – | |
Ebstein malformation | (< 5) | (< 5) | (< 5) | |
Congenital valvular dysplasia | (< 5) | (< 5) | – | |
Aorta coarctation | (< 5) | (< 5) | (< 5) | |
Other rare congenital heart malformation | (61) | (53) | (19) | |
RARE GENETIC | 346 [30.3%] | 192 [42.67%] | 249 [32.01%] | 787 |
Chromosomal anomaly | ||||
Trisomy 18 | (114) | (31) | (< 5) | |
Trisomy 21 | (29) | (36) | (22) | |
Trisomy 13 | (64) | (10) | (< 5) | |
22q11.2 deletion syndrome | (6) | (< 5) | (< 5) | |
Pallister-Killian syndrome | (< 5) | (< 5) | (< 5) | |
Triploidy | (< 5) | – | – | |
Wolf-Hirschhorn syndrome | (< 5) | – | (< 5) | |
Turner syndrome | (< 5) | (< 5) | – | |
Other chromosomal anomaly | (21) | (16) | (27) | |
Inborn errors of metabolism | ||||
Mitochondrial disease | (6) | (7) | (21) | |
Alpers syndrome | – | – | (11) | |
Leigh syndrome | (< 5) | (< 5) | (10) | |
Batten disease | – | – | (< 5) | |
Hurler syndrome | – | (< 5) | (< 5) | |
Other inborn errors of metabolism | (9) | (24) | (30) | |
Rare neurologic disease | ||||
Schizencephaly | – | – | (6) | |
Spinal Muscular Atrophy | – | (17) | (6) | |
Muscular dystrophy | (< 5) | – | (6) | |
Rett syndrome | – | – | (6) | |
Aicardi-Goutieres Syndrome | – | – | (< 5) | |
Other rare neurologic disease | – | (16) | (29) | |
Cystic Fibrosis | – | (<5) | (11) | |
Rare endocrine disease | (< 5) | – | (5) | |
Rare hematologic disease | (5) | (< 5) | (5) | |
Rare immune disease | – | (5) | ||
Other rare genetic | (86) | (24) | (29) | |
RARE NEOPLASTIC | 10 [0.88%] | 11 [2.44%] | 265 [34.06%] | 286 |
Acute lymphoblastic leukemia | – | (< 5) | (27) | |
Neuroblastoma | – | – | (26) | |
Rhabdoid tumour | – | (< 5) | (6) | |
Medulloblastoma | (< 5) | – | (12) | |
Glioma | (< 5) | (< 5) | (11) | |
Astrocytoma | (< 5) | (< 5) | (12) | |
Teratoma | (< 5) | – | – | |
Other rare neoplastic | (4) | (2) | (171) | |
RARE INFECTIOUS | 116 [10.18%] | 43 [9.56%] | 39 [5.01%] | 198 |
Sepsis in premature infants | (102) | (27) | (< 5) | |
Meningitis | (< 5) | (9) | 28 | |
Pertussis | – | (6) | – | |
Congenital Herpes simplex virus infection | (< 5) | – | (< 5) | |
Congenital toxoplasmosis | (< 5) | – | – | |
Fetal cytomegalovirus syndrome | (< 5) | – | (< 5) | |
Other rare infectious | (4) | (1) | (8) | |
OTHER | 80 [7.02%] | 57 [12.67%] | 132 [16.97%] | 269 |
Cardiomyopathy | (12) | (20) | (25) | |
Cerebral Palsy | – | (< 5) | (52) | |
Epilepsy | – | (< 5) | (23) | |
Other rare disease | (68) | (30) | (32) | |
TOTAL | 1140 [100%] | 450 [100%] | 778 [100%] | 2368 |