: 811 With the classical, or neonatal presentation of glycine encephalopathy, the infant is born after an unremarkable pregnancy, but presents with lethargy, hypotonia, apneic seizures and myoclonic jerks, which can progress to apnea requiring artificial ventilation, and often death. Apneic patients can regain spontaneous respiration in their second to third week of life. After recovery from the initial episode, patients have intractable seizures and profound intellectual disability, remaining developmentally delayed. Some mothers comment retrospectively that they noticed fetal rhythmic "hiccuping" episodes during pregnancy, most likely reflecting seizure episodes in utero. Patients with the infantile form of glycine encephalopathy do not show lethargy and coma in the neonatal period, but often have a history of hypotonia. They often have seizures, which can range in severity and responsiveness to treatment, and they are typically developmentally delayed. Glycine encephalopathy can also present as a milder form with episodic seizures, ataxia, movement disorders, and gaze palsy during febrile illness. These patients are also developmentally delayed, to varying degrees. In the later onset form, patients typically have normal intellectual function, but present with spastic diplegia and optic atrophy. The mild form of the disorder corresponds to greatly reduced but not fully absent GCS activity.Transient neonatal hyperglycinemia has been described in a very small number of cases. Initially, these patients present with the same symptoms and laboratory results that are seen in the classical presentation.
The lactiferous duct should be normal without any retraction.Inverted nipple grade 2 is the nipple which can be pulled out, though not as easily as the grade 1, but which retracts after pressure is released. Breast feeding is usually possible, though it is more likely to be hard to get the baby to latch comfortably in the first weeks after birth; extra help may be needed. Grade 2 nipples have a moderate degree of fibrosis. The lactiferous ducts are mildly retracted, but do not need to be cut for the release of fibrosis. On histological examination, these nipples have rich collagenous stromata with numerous bundles of smooth muscle. Inverted nipple grade 3 describes a severely inverted and retracted nipple which can rarely be pulled out physically and which requires surgery to be protracted. Milk ducts are often constricted, and breast feeding is difficult, but not necessarily impossible. With good preparation and help, babies often can drink at the breast, and milk production is not affected; after breastfeeding, nipples often are less or no longer inverted. Women with grade-3 inverted nipples may also struggle with infections, rashes, or problems with nipple hygiene. The fibrosis is remarkable and lactiferous ducts are short and severely retracted. The bulk of soft tissue is markedly insufficient in the nipple. Histologically, atrophic terminal duct lobular units and severe fibrosis are seen. Pregnancy and breastfeeding
Women with inverted nipples may find that their nipples protract (come out) temporarily or permanently during pregnancy, or as a result of breastfeeding.