Recurrent brachial plexus neuropathy in a family with subtle dysmorphic features‐a case of hereditary neuralgic amyotrophy

Abstract

Brachial plexus neuropathy is a disorder which usually occurs sporadically, and is characterized by pain and varying degrees of weakness in one or both upper limbs. Some patients experience recurrent episodes. The hereditary form is usually associated with dysmorphic features. We describe a mother and son with recurrent episodes. Despite very slight dysmorphic features, we believe this is a case of the inherited form.

Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 gene mutation – a family study

“…Cleft palate and facial dysmorphic features have been previously described in cases of classical HNA (4–7) and as such have found entry into the London Dysmorphology Database (LDDB) (15). However, there remain few documentations on the facial aspect of HNA patients and almost no reports on affected individuals from early childhood (4, 6, 16).…”

“…HNA shows high penetrance (approximately 95% by the age of 40 years) and may present in one of two clinical patterns, either classical relapsing remitting or chronic undulating phenotype (2). In some families, HNA is associated with minor dysmorphic features such as a long narrow face, hypotelorism, epicanthal folds, shortened palpebral fissures, small mouth, cleft palate, minor syndactyly, circular skin creases and short stature (4–7). A locus for HNA was linked to chromosome 17q25 (8–11).…”

Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome: Expanding the Phenotype

“…When conditions involving an association of cleft palate with facial characteristics of BPES were reviewed, it was determined that hereditary neuralgic amyotrophy (HNA) should be discriminated in our case. Cleft palate and dysmorphic facial characteristics have been previously identified in classic HNA cases (Erikson, 1974; Airaksinen et al, 1985; Orstavik et al, 1997; Jeannet et al 2001). Although there are a few reports on the facial aspect of patients with HNA, almost none affect individuals in early childhood (Dunn et al, 1978; Airaksinen et al, 1985; Orstavik et al, 1997; Jeannet et al, 2001; Laccone et al, 2008).…”

Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbach–Rott syndrome

“…Recently De Carvalho et al 2008 described a girl with similar findings. Hall 1991 first pointed out the similarity of the phenotype of Schilbach–Rott syndrome with the Hereditary Neuralgic Amyotrophy (OMIM 162100) including hypotelorism, blepharophimosis, cleft palate and up‐slanting palpebral fissures [Gardner and Maloney, 1968; Erikson, 1974; Airaksinen et al, 1985; Hall, 1991; Pellegrino et al, 1996; Ørstavik et al, 1997; Jeannet et al, 2001; Kuhlenbäumer et al, 2005]. Brachial plexus neuritis in these patients is characterized by episodes of pain, mostly in the upper arm, followed by weakness and usually full recovery.…”

“…Blepharophimosis, epicanthal folds, submucosal cleft palate, and/or bifid uvula are frequent findings. The findings in Schilbach–Rott syndrome resemble those of the brachial plexus neuritis‐cleft palate‐dysmorphic facies syndrome (Parsonage–Turner syndrome; OMIM 162100) [Gardner and Maloney, 1968; Erikson, 1974; Airaksinen et al, 1985; Hall, 1991; Pellegrino et al, 1996; Ørstavik et al, 1997; Jeannet et al, 2001; Kuhlenbäumer et al, 2005]. Brachial plexus neuritis is characterized by episodes of pain, mostly in the upper arm, followed by weakness and usually full recovery and is caused by mutations in the SEPT9 gene [Kuhlenbäumer et al, 2005].…”