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Background: Anemia in children is common and finding the underlying cause is often uncomplicated. However, in some cases, the underlying diagnosis is rare and difficult to diagnose., Case Presentation: A toddler presented with severe anemia with normal red cell indices and a low reticulocyte count. The remaining hematological parameters were normal, bar a slight thrombocytosis. At this point a diagnosis of transient erythroblastopenia of childhood (TEC) was made. The child continued to have slight anemia with intermittent macrocytosis and reticulocytopenia throughout childhood. Growth and development was normal, and there were no signs of congenital abnormalities in the heart or kidneys nor any craniofacial or phalangeal defects. Repeated bone marrow examinations showed no significant abnormal findings. As a teenager the patient was diagnosed with Diamond-Blackfan anemia through an exome-based gene panel which revealed a mutation in the RPL11 gene., Interpretation: Congenital bone marrow failure syndromes do not always present in the classical way, leading to a delayed diagnosis. The increasing availability of different gene panels for patients with persistent abnormal hematological laboratory parameters offers the possibility of a more accurate diagnostic pathway, which is important for adequate follow-up and genetic counselling.

Sickle cell disease is a group of diseases presenting with a set of characteristic acute and chronic manifestations. Sickle cell disease has traditionally been uncommon in the Northern European population; however, due to demographic changes, it is increasingly also something that Norwegian clinicians should be cognisant of. In this clinical review article we wish to present a brief introduction to sickle cell disease, with an emphasis on its aetiology, pathophysiology, clinical manifestation and how the diagnosis is established based on laboratory testing.

Teratogenic effects of drugs are not limited to visual malformations but also include developmental disturbances. Probably drugs that inhibit nerve signals such as dopamine in the central nervous system can affect the maturing of the foetal brain in the last trimester and in the postpartum period, as shown in animal studies. We have observed an infant girl with psychomotoric disturbances which occurred at the age of two weeks. The mother had received 108 mg perfenazin decanoate intramuscular injections four times during the second and third trimester, the last two times were three weeks and two days before delivery, which was at term. The symptoms resembled tardive dyskinesia. Periodically the baby showed restlessness and uttered high-pitched cries. The literature on neuroleptics indicates no major teratogenic risk, but possible risk of behavioural teratogenicity. We recommend greater caution in connection with prescribing neuroleptics in pregnancy.

We have evaluated neonatal transports to Ullevål hospital over a six-year period. These were either carried out by helicopter, using a trained transportation team, or by ambulance, the transport being improvised from one transport to another. The investigation shows great variation in the handling of the transports, with the most significant problems in the group without a structured transport system. In addition to generally rather casual and often hazardous transport, particular problems arose in connection with maintaining an adequate body temperature. In addition, the transports were very inadequately documented.

The study concerns children born the years 1975-84. Only children in need of hearing aids are taken into account. The incidense was 1.08 per 1,000 live born children. The prevalens in January 1988 was 1.57 per 1,000 children, including 18 children moving into the city. The etiology among 75 children was 47% prenatal, 16% perinatal, 11% postnatal defects and further 26% of unknown neurogenic origin. Among the 63 impaired children living in Oslo 1988 15 or 24% had multiple handicaps. Identification of hearing loss before one year of age increased from 23% for children born 1975/79 to near 60% for children born 1980/84. At risk children should be tested before leaving hospital after delivery.