Cold-induced sweating syndrome: CISS1 and CISS2: manifestations from infancy to adulthood. Four new cases.

Cold-induced sweating syndrome (CISS), a rare autosomal recessive disorder, is genetically heterogeneous. Deficiency of the CRLF1 and the CLCF1 gene functions results in CISS1 and CISS2, respectively. So far, only a single patient with CISS2 has been reported. Here we describe four new cases of CISS, two additional patients with CISS2 (confirming locus heterogeneity) and two patients with CISS1. Their case histories are given in detail to emphasize the striking similarity of their presentation, which makes a clinical differentiation impossible. All four cases had a uniform presentation in the neonatal period, much like Crisponi syndrome - inability to suckle and swallow due to facial and bulbar weakness; excessive startle and trismus-like facial contractions when crying or being handled; apnoeic spells; episodic unexplained fevers (up to 41 degrees C) and associated seizures or even sudden death; erythematous skin rashes; and camptodactyly. Thus it is evident that Crisponi syndrome is the pediatric manifestation of both CISS1 and CISS2. Signs abate during infancy and most children have a normal psychomotor development. During the first decade all children develop scoliosis and abnormal sweating which is the most disabling symptom in adulthood. We report that cold-induced sweating can be effectively treated. Detailed clinical observations, correlated with the findings from basic science research, may serve to elucidate the role(s) of this important cytokine complex in embryonic and postnatal development.

[Hereditary thyroxin-binding globulin deficiency--changed thyroid function tests]. / Hereditaer tyroksinbindande globulinmangel--endringar i thyreoideafunksjonsprøver.

BACKGROUND: Variation in concentrations of carrier proteins of hormones may influence the effect of the hormones and may cause confusion in the interpretation of laboratory results. MATERIAL AND METHOD: A Caucasian family with a hereditary thyroxin-binding globulin (TBG) deficiency was investigated. 22 persons in two generations had blood tests for TBG, thyrotropin (TSH), three-iodothyronin (T3), thyroglobulin (TG), thyroxin and for free thyroxin (FT4) by two different commercial tests, Delfia and IMx Abbott (IMx). Relevant health information was collected of all persons. RESULTS: Six males had very low T4 values, non-detectable TBG, increased FT4 values on the Delfia test and within normal range on the IMx test. Six females had lower borderline T4 and TBG. All persons were clinical euthyroid. INTERPRETATION: The condition is considered to represent X-chromosome linked inheritance with hemizygote affected males and heterozygote female carriers with intermediate values for T4 and TBG. Commercial test kits for FT4 may present considerably different results in conditions with TBG deficiency. When a high level of measured FT4 combined with normal TSH is found; TBG deficiency should be considered.

[Generalized edema following insulin treatment of newly diagnosed diabetes mellitus]. / Generaliserte ødemer ved insulinbehandling av nyoppdaget diabetes mellitus.

BACKGROUND: Generalised oedema after introducing insulin therapy is an infrequent complication, usually appearing when large doses are used in underweight patients. The pathophysiology is unclear. MATERIALS AND METHODS: Two patients from two different hospitals are presented by case histories. A limited literature search was performed. RESULTS: Patient 1. A 13-year-old girl was admitted with polyuria and polydipsia and a weight loss of 15 kg over six months. She had ankle oedema, dry scaling skin, weight 31.6 kg (2 kg below 2.5th centile), marked hyperglycaemia (60 mmol/l), and ketonuria without acidosis. After one day with insulin infusion she was treated with subcutaneous injections, reaching after a few days a dose of 2 U/kg/day. She gradually developed generalised oedema and gained 20 kg over two weeks. From day 8 after admission she was treated with furosemide and from day 16 also with ephedrine. S-albumin reached a nadir of 25 g/l. The oedema gradually disappeared. The patient was discharged after one month, weighing 42 kg, and with a daily insulin dose of 88 U. Patient 2. A 14-year-old girl presented with decreased vision over a period of six months. She felt otherwise healthy and had no weight loss. Bilateral cataract and hyperglycaemia (20.7 mmol/l) were detected. There were normal serum electrolytes and no acidosis. After administration of insulin (increased up to 1.5 U/kg/day) she gradually developed generalised oedema, gaining 8.5 kg over nine days. S-albumin fell from 36 g/l to 28 g/l. She was treated with furosemide and the oedema gradually disappeared in the course of one month. None of the patients had proteinuria, liver failure or hyperaldosteronism, but both experienced transient and unexplained muscle pain and neuralgic pain in the legs. INTERPRETATIONS: One of the cases with newly diagnosed diabetes and generalised oedema presented here, supports suggestions in the literature of an association between marked weight loss and large insulin doses. However, as shown by the other case presented, this association is not obligate.

Autosomal recessive non-progressive ataxia with an early childhood debut.

The case histories and clinical studies are given of 7 consanguineous patients, 4 adults and 3 children, with a rather uniform clinical picture of nonprogressive cerebellar ataxia manifesting in early childhood. Most patients have in addition slight spastic signs, short stature and normal intelligence. There are no signs of other organ pathology, biochemical aberrations, endocrine- or immunopathology. CT-scan and PEG show cerebellar atrophy. The pedigree analysis indicates an autosomal recessive mode of inheritance. The condition falls between the ataxic syndromes in the cerebral palsy range and the heredo-ataxias. Until now, no similar disorders seems to have been described.