Universidade Federal de São Paulo (UNIFESP) Department of NeurologyUNIFESP, Department of NeurologySciEL

Barsottini, Orlando Graziani Povoas

Dieckmann, Paula Macedo

Dutra, Lívia Almeida

Lucena, Lara Carneiro De

Pedroso, José Luiz

Arquivos de Neuro-Psiquiatria

Paula Macedo Dieckmann

Lara Carneiro de Lucena

Lívia Almeida Dutra

José Luiz Pedroso

Orlando G.P. Barsottini

Directory of Open Access Journals

Marfanoid features and X-linked mental retardation associated with craniofacial abnormalities: the Lujan-Fryns syndrome

Dieckmann, Paula Macedo [UNIFESP]

Lucena, Lara Carneiro De [UNIFESP]

Dutra, Lívia Almeida [UNIFESP]

Pedroso, José Luiz [UNIFESP]

Barsottini, Orlando Graziani Povoas [UNIFESP]

Repositório Institucional UNIFESP

68 Arq Neuropsiquiatr 2013;71(1):66-69electromyography showed positive sharp waves, fibrilla-tions, and absence of functioning motor units in muscles innervated by the left radial nerve, with the exception of the triceps.DISCUSSIONAppleton1, in 1911, reported the first description of this anatomical variation based on a forearm dissection. He found only the posterior radial nerve interosseous branch with ab-sent SRN, below the elbow. On the dorsum of the hand, the LACN extended out beyond its usual distribution to sup-ply the SRN territory (Figure). The dorsal branch of the ulnar nerve had greater ramifications than those usually observed by completing the innervation of the dorsal hand. Other au-thors2-5 have studied the distribution of LACN and SRN in the dorsum of the hand and confirmed the existence of this ana-tomical variation.In our assessment, the occurrence of an anatomical varia-tion involving LACN and SRN, in which the cutaneous terri-tory of the SRN is wholly or partially supplied by the LACN, can explain the data obtained in the presence of total le-sion of the radial nerve in the arm. In cases of proximal ra-dial nerve injury, the occurrence of this variation may lead to diagnostic errors in the EDX study, in which a total axonal damage may erroneously be considered as partial lesion with a conduction block component.1. Appleton AB. A case of abnormal distribution of the n. musculocutaneous, with complete absence of the ramus cutaneous n. radialis. J Anat Physiol 1911;46:89-94.2. Stopford JSB. The variation in distribution of the cutaneous nerves of the hand and digits. J Anat 1918;53:14-25.3. Mackinnon SE, Dellon AL. The overlap pattern of the lateral antebrachial cutaneous nerve and the superficial branch of the radial nerve. J Hand Surg 1985;10:522-526.4. Huanmanop T, Agthong S, Luengchawapong K, et al. Anatomic characteristics and surgical implications of the superficial radial nerve. J Med Assoc Thai 2007;90:1423-1429.5. Yogesh A, Marathe R, Pandit S. Musculocutaneous nerve substituting for the distal part of radial nerve: a case report and its embryological basis. J Neurosci Rural Pract 2011;2:74-76.ReferencesMarfanoid features and X-linked mental retardation associated with craniofacial abnormalities: the Lujan-Fryns syndromeAspectos marfanoides e retardo mental ligado ao X associados a anormalidades craniofaciais: síndrome de Lujan-FrynsPaula Macedo Dieckmann, Lara Carneiro de Lucena, Lívia Almeida Dutra, José Luiz Pedroso,  Orlando G.P. BarsottiniDepartment of Neurology, Universidade Federal de São Paulo (Unifesp), São Paulo SP, Brazil.Correspondence: José Luiz Pedroso; Rua Botucatu 740; 04023-900 São Paulo SP - Brasil; E-mail: zeluizpedroso@yahoo.com.brConflict of interest: There is no conflict of interest to declare.Received 01 April 2012; Received in final form 28 June 2012; Accepted 07 July 2012Marfanoid features associated with mental retardation are often a diagnostic challenge for general neurologists, since sev-eral genetic and inborn metabolic diseases present this clinical spectrum. Some of these diseases have typical clinical markers that may aid diagnosis. For instance, Lujan-Fryns syndrome is a recessive X-linked condition characterized by mental retar-dation, marfanoid habitus, and facial dysmorphisms1,2.Herein, we described a male patient with marfanoid habitus and mental retardation, in whom the presence of facial dysmor-phisms was the clue for diagnosing the Lujan-Fryns syndrome.CASE REPORTA 25-year-old man presented to the Division of General Neurology, at Universidade Federal de São Paulo, with devel-opmental delay and learning disabilities since childhood. His family history was unremarkable and there was no parental consanguinity. He had another brother with possible mar-fanoid features and learning disabilities, and other three ones and a sister that had not been evaluated. A possible X-linked inherited disorder was suspected. On examination, the patient 69Arq Neuropsiquiatr 2013;71(1):66-69presented high stature, prominent forehead, large nose, deep and short filters, long narrow face, low-set ears, small man-dible, long arms and fingers, and hypotonia (Figure). He also showed severe mental retardation. Cardiologic and ophthal-mologic evaluations were normal. Brain magnetic resonance resulted normal. His karyotype was 46 XY, and fragile X genet-ic test was negative. Serum homocysteine was 9.95  mmol/L (normal range from 5 to 15 mmol/L). With this clinical presen-tation and after exclusion of other diseases, the diagnosis of Lujan-Fryns syndrome was suggested.DISCUSSIONIn 1984, a new form of X-linked mental retardation was described. The so-called Lujan-Fryns syndrome or X-linked mental retardation with marfanoid habitus syndrome is a rare syndromal X-linked form of mental retardation (mild to mod-erate mental retardation), associated with tall marfanoid stat-ure, distinct facial dysmorphism, and behavioral problems1,2. Despite known genetic origin, there is no genetic test avail-able to acknowledge the diagnosis of Lujan-Fryns syndrome, though a mutation in MED12 gene has already been described3.Craniofacial features in Lujan-Fryns syndrome include prominent forehead, long narrow face, maxillary hypopla-sia, small mandible, long nose with high and narrow nasal bridge, short and deep philtra, thin upper lip, highly arched palate, receding chin, and low-set retroverted normal shaped ears4. In some cases, brain imaging shows corpus callosum agenesis4.The diagnosis of Lujan-Fryns syndrome is based on clinical manifestations and on exclusion of other conditions, such as homocystinuria, Fragile X syndrome, 22q11 deletion syndrome, Klinefelter and Marfan syndromes. Opitz-Kaveggia syndrome is an allelic disorder with an overlapping phenotype. It should also be remembered as a differential diagnosis of schizophre-nia, considering the important behavioral problems associat-ed with that condition (hyperactiveness, aggressiveness, and autistic-like behavior). There is no available treatment for this syndrome. In general, patients need special education and psy-chological support. Genetic counseling is recommended, con-sidering transmission pattern of the syndrome3,4.In summary, our report reinforces craniofacial features as a clue for the diagnosis of Lujan-Fryns syndrome in the context of marfanoid habitus and possible X-linked men-tal retardation.1. Lujan JE, Carlin ME, Lubs HA. A form of X-linked mental retardation with marfanoid habitus. Am J Med Genet 1984;17:311-322.2. Fryns JP, Buttiens M. X-linked mental retardation with marfanoid habitus. Am J Med Genet 1987;28:267-274.3. Schwartz CE, Tarpey PS, Lubs HA, et al. The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. J Med Genet 2007;44:472-477.4. Van Buggenhout G, Fryns JP. Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus). Orphanet J Rare Dis 2006;1:26.ReferencesFigure. Patient has prominent forehead, large nose, deep and short filters, long narrow face, low-set ears, small mandible, and marfanoid features with long arms and fingers.

Aspectos marfanoides e retardo mental ligado ao X associados a anormalidades craniofaciais: síndrome de Lujan-Fryns

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Aspectos marfanoides e retardo mental ligado ao X associados a anormalidades craniofaciais: síndrome de Lujan-Fryns

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