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Syndrome of the Month Johanson-Blizzard Syndrome

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Syndrome of the Month Johanson-Blizzard Syndrome J Med Genet: first published as 10.1136/jmg.26.1.45 on 1 January 1989. Downloaded from Syndrome of the month Journal of Medical Genetics 1989, 26, 45-48 Johanson-Blizzard syndrome JANE A HURST AND MICHAEL BARAITSER From the Department of Clinical Genetics, Institute of Child Health, 30 Guilford Street, London WCINJEH. In 1971 Johanson and Blizzard' reported a new be missed (figs 1 and 2). The picture is determined syndrome in three unrelated girls characterised by by the unusual nasal configuration. The severe congenital aplasia of the alae nasi, deafness, hypo- aplasia of the alae nasi leads to the appearance of a thyroidism, dwarfism, absent permanent teeth, and malabsorption. Children with this syndrome had TABLE Frequency offeatures in the Johanson-Blizzard been described earlier by Morris and Fisher in 19672 syndrome and Townes in 19693 as examples of trypsinogen Reported This deficiency disease. Townes and White4 subsequently cases case reviewed the patient reported in 19693 and de- (n=22) scribed the presence of additional features which Hypoplastic alae nasi 22 + confirmed the diagnosis of the Johanson-Blizzard Pancreatic insufficiency/failure to thrive 21 + syndrome. There have since been 22 patients Aplasia cutis congenita 19 Short stature 15 + copyright. reported with Johanson-Blizzard syndrome, and a Mental retardation 13 Mild further seven children related to these. The spec- Dental anomalies 13 + Deafness 12 + trum of associated features is now well documented Anorectal anomalies 11 and the inheritance of the syndrome is autosomal Microcephaly 8 Genitourinary abnormalities 7 recessive. However, there remain many problems Hypothyroidism 6 + which make counselling difficult, in particular the Cardiac malformation 3 degree of mental handicap and the observation that some children die from complications of the severe http://jmg.bmj.com/ malabsorption despite intensive treatment. This article reviews the 22 patients previously reported and also includes details of a previously unreported boy. Clinical features The main features are shown in the table. The most on September 30, 2021 by guest. Protected constant signs necessary to make a diagnosis are aplasia of the alae nasi, an exocrine pancreatic defect, and unusual hair growth pattern. In the absence of major structural abnormalities, the affected infant usually comes to medical atten- tion because of failure to thrive. On presentation, the infant is malnourished, hypotonic, and often oedematous because of hypoproteinaemia. THE FACE The diagnosis should be made easily in the neonatal period. Indeed the 'gestalt' of the Johanson-Blizzard syndrome is so distinct that seen once it should not FIG 1 Ourpatient, a boy, aged two months. Note the small Received for publication 6 May 1988. nose with aplasia ofthe alae nasi and the abnormal hair Accepted for publication 3 June 1988. growth pattern, also shown in fig 3. 45 J Med Genet: first published as 10.1136/jmg.26.1.45 on 1 January 1989. Downloaded from 46 Jane A Hurst and Michael Baraitser thin, torpedo shaped nose with large nostrils. In addition, the hair is swept up, especially frontally (fig 3), and has a patchy distribution over the scalp. Closer inspection shows areas of alopecia (fig 4) with underlying aplasia cutis congenita, which are FIG 4 A small area ofalopecia in the occipital region. This child had an area ofaplasia cutis congenita. copyright. characteristically in the midline and in the occipital region. They heal to form atrophic scars. FIG 2 Strikingly similarfacialfeatures are seen in this unrelated girl. MALABSORPTION An exocrine pancreatic defect is a constant feature of this condition. Townes3 and Townes and White4 described the abnormalities of pancreatic function.http://jmg.bmj.com/ They reported an absence of trypsin, chymotrypsin, and their proenzymes, as well as carboxypeptidase and lipase, but they thought the amylase activity was normal. This was subsequently found to be a spurious result as isoenzyme studies showed the amylase was from the salivary gland. When the contribution from saliva is excluded, pancreatic amylase activity is absent. At necropsy the paren- on September 30, 2021 by guest. Protected chyma of the pancreatic gland is replaced by fatty tissue. 5 6 There are fewer islets of Langerhans but fe:''^: .: . clinically there are no reports of impaired glucose _lF tolerance. F The severe malabsorption caused by these en- t zyme deficiencies leads to hypoproteinaemia, oede- i.^ ma, anaemia, and failure to thrive. The treatment of i. the pancreatic failure is by pancreatic enzyme x ;,...... replacement, as in cystic fibrosis. It is a life threatening condition and several of the children reported have died despite full medical treatment. SHORT STATURE FIG 3 Frontal upsweep ofthe hair. The same boy as shown The short stature has been attributed to hypothy- infig 1. roidism and malabsorption. There have been suf- J Med Genet: first published as 10.1136/jmg.26.1.45 on 1 January 1989. Downloaded from Syndrome ofthe month 47 ficient cases of short children with normal thyroid and that of Townes" was reported as "relatively function4 6 7 to know that hypothyroidism is not the normal" at three and a half years, although by 121/2 cause. A poor nutritional state contributes to the years she needed special education. The brother and short stature and the child will not grow well unless sister reported by Moeschler and Lubinsky8 were the pancreatic enzyme deficiency is treated. normal at two and a half and two years. Severe Our patient had pituitary hypothyroidism, but as retardation was found in the patients of Daentl et yet has not had further pituitary function tests. It is al,5 Baraitser and Hodgson,'2 and Mardini et al.'3 interesting to speculate that growth hormone de- ficiency may be the cause of the short stature in this ANORECTAL ANOMALIES syndrome. In the two necropsy reports,5 6 there is As shown in the table, 11 of the reported children no mention of pituitary gland pathology. with the Johanson-Blizzard syndrome had anorectal abnormalities. In the majority of cases this was an HYPOTHYROIDISM imperforate anus. These children come to medical All three girls in the original report of Johanson and attention early and the inital surgical management is Blizzard' were hypothyroid. They stated that the the fashioning of a transverse colostomy. It is hypothyroidism may be aquired rather than con- important that poor weight gain in these infants is genital, as one of their patients had a normal bone not attributed to the surgery but that malabsorption age at birth and her thyroid function was not as is recognised and treated. depressed as in the older patients. Subsequently six out of the 22 reported cases have been found to have DEAFNESS reduced thyroid function. The results may be Hearing loss has been reported in 12 out of 22 difficult to interpret because in severely mal- patients. The case of Sismansis et al7 was investi- nourished children there will be depression of the gated in detail. There was a severe sensorineural thyroid binding globulin. The additional patient hearing loss with associated absent vestibular func- with the Johanson-Blizzard syndrome we present tion, but the inner ears were structurally normal on here had normal thyroid function, including a TRH polytomograms. There have been no further reports copyright. test at the age of eight weeks. By the age of six of more detailed radiological investigations. At months he had a low T4 (29 nmol/l) and low TSH necropsy6 the temporal bones were not studied. (1.5 mU/l) indicating pituitary hypothyroidism. Our patient has a symmetrical, moderately severe The true aetiology of the hypothyroidism has not sensorineural hearing loss. been determined. Thyroid autoantibodies are not present. At necropsy' the thyroid gland was OTHER FEATURES atrophic with colloid distension in a child known to Additional features listed in the table are abnormali- http://jmg.bmj.com/ be hypothyroid, but normal6 in a euthyroid child. ties of dentition, genitourinary anomalies, and The growth failure, deafness, and mental retarda- cardiac malformations. The dental findings have tion have also been considered in terms of the been well reviewed by Zerres and Holtgrave.'4 The hypothyroidism. However, there are sufficient chil- children have delayed eruption of teeth, which are dren with normal thyroid function to know that small but normal in shape. The genitourinary hypothyroidism is unlikely to be the cause, though anomalies were striking in the three girls originally it can contribute if allowed to go untreated. reported,' two of whom had a single urogenital orifice, but other children have not had major on September 30, 2021 by guest. Protected MENTAL RETARDATION structural problems. A congenital heart defect has Thirteen out of the 22 children reported have been been reported in only three of the children, two of developmentally delayed. This is an underestimate whom were sibs reported by Helin and Jodal'5 with as infants have died in the neonatal period. The situs inversus. Minor abnormalities of the lacrimal cause is obscure. Daentl et al5 showed focal migra- duct have also been recorded. tional defects in the brain at necropsy but this was not confirmed by Moeschler et al,6 who found the DIFFERENTIAL DIAGNOSIS brain to be small but structurally normal. There is The diagnosis of the Johanson-Blizzard syndrome is also no clear relationship between mental retar- not difficult when all the features are present. dation and hypothyroidism. As pointed out by Moes- Hypoplasia of the alae nasi occurs in the ocu- chler and Lubinsky,8 the patients of Schussheim et lodentodigital syndrome,'6 aplasia cutis congenita of aP9 and Sismansis et al7 were severely retarded but the scalp in the Adams-Oliver syndrome,'7 and neither microcephalic nor hypothyroid. The degree pancreatic malabsorption in the Shwachman- of retardation cannot be predicted. The patient of Diamond syndrome, but these should not prove to Day and Israel'o showed mild developmental delay be diagnostic problems.
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