Rare inheritable conditions may present without warning in the neonatal period and thus lead curious staff to institute expansive clinical investigations. Non-ketotic hyperglycaemia (NKH) in a normal fully grown male infant following an essentially eventful pregnancy associated with unrelated condition provoked much clinical curiosity. NKH should therefore be included as a differential diagnosis in an unwell neonate presenting with hiccoughs, seizures, myotonic jerks, and hypotonia as our very unique case clearly demonstrated.
Juvenile dermatomyositis has variable clinical presentations both in and outside of pregnancy. A literature review indicated that optimal maternal and fetal outcomes can be anticipated when the pregnancy is undertaken while the disease is in remission. Poorer outcomes are associated with flare-up of the disease in early pregnancy compared with exacerbation in the second or third trimester, when fetal prognosis is usually good. We present a case of JDM in pregnancy with disease exacerbation late in pregnancy and review of the relevant literature.
Osteogenesis imperfecta (OI) is an important inheritable thanetrophic disorder with wide ranging variable implications and prognosis for babies in utero and those who survive the perinatal period. The diagnosis of the severe forms can be readily made but some forms of the disease are known to go unrecognised until childhood.
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