Kabuki make-up syndrome

Síndrome da maquiagem de kabuki

Kabuki make-up syndrome

Síndrome da maquiagem de kabuki

Ana Paula Tedesco GabrieliI; Fernanda Velho Rovaris^II; Laura Elaine Bisol^II; Lívia Borges^II; Marja Mandelli Michelin^II; Louise Lovatto^II

^IMaster and Professor

^IIStudents

Address for correspondence

SUMMARY

The Kabuki Make-up Syndrome is a rare congenital anomaly, characterized by five fundamental features, the " Pentad of Niikawa": dysmorphic facies, skeletal anomalies; dermatoglyphic abnormalities, mild to moderate mental retardation, postnatal growth deficiency. Orthopaedic aspects include scoliosis, malformation of spinal column and ribs, delay in skeletal maturation, congenital deslocation of the hip and patelar dislocation, among others.

With the purpose of drawing attention to this diagnostic, the case of five years old brazilian female patient is presented.

It´s convenient to present this case to focus on the existance of this syndrome and all its complexity and, therefore, provide help for future diagnosis.

Key Words: Kabuki make-up syndrome; "Pentad of Niikawa"; ortopedic aspects

RESUMO

A Síndrome da Maquiagem de Kabuki é uma anomalia congênita rara, caracterizada por cinco características fundamentais, a " Pêntade de Niikawa": face dismórfica; anomalias esqueléticas; alterações dermatoglíficas; leve a moderado retardo mental; retardo do crescimento pós-natal. Os aspectos ortopédicos incluem escoliose, malformação da coluna vertebral e costelas, maturação óssea retardada, luxação congênita do quadril e luxação patelar, entre outras.

Com o objetivo de chamar a atenção para este diagnóstico, é apresentado o caso de paciente cinco anos de idade, brasileira, feminina, portadora da síndrome.

É conveniente apresentar este caso para atentar a existência dessa síndrome e toda sua complexidade e, assim, auxiliar futuros diagnósticos.

Descritores: Síndrome da maquiagem de kabuki; pêntade de Niikawa; aspectos ortopédicos

INTRODUCTION

Kabuki Make-up Syndrome was initially reported in Japan in 1981 as a rare abnormality of unidentified origin. Niikawa and Kuroki, from different Japanese medical centers simultaneously and independently published the new malformation syndrome, called Kabuki Make-up Syndrome ¾ KMS or Niikawa-Kuroki's Syndrome, where a typical facies resembles the make-up of the traditional Kabuki Japanese theater^(8,11).

Prevalence in Japan was estimated as 1:32000 (about 30 in a million births). In the rest of the world, a growing number of patients are being diagnosed, without preference of gender or race^(4,6,12,13). The genetic modification of KMS is uncertain and chromosomal abnormalities, probably incidental, have been described. There are few examples of familial transmission with a possible autosomic dominant inheritance^{(11, 12)}. It is currently accepted that KMS is possibly due to a "de novo" autosomic dominant mutation of an unidentified gene^{(10, 14)}.

Phenotypic manifestations of KMS were determined after the study of 62 cases from 33 institutions, mostly form Japan, Germany and Libya. There are five fundamental features, known as "Niikawa's Pentad": 1. a dysmorphic facies, found in 100% of the cases; 2. Skeletal abnormalities, including brachydactylia of 5^th finger and/or vertebral deformity (92%); 3. Dermatoglyphic abnormalities, with vaulted digital pulp and ulnal digital loops (93%); 4. Light to moderate mental retardation (92%); 5. Post natal growth impairment (83%)^(4,9,13). From an orthopedic standpoint are described scoliosis, spine and ribs malformations, delayed bone maturation, congenital hip dislocation and patellar dislocation among others. Aiming to divulge the characteristics of this syndrome, drawing special attention to orthopedic features, following we describe one case of KMS.

CASE PRESENTATION

Five years old female child, white, sent for an orthopedic consultation at the age of 2 years and 6 months diagnosed as Kabuki Syndrome when 2 years old, with a normal cariotype.

• Birth history: 26 years old mother, and 27 years old father. Both from Italian origin, with no consanguinity. First pregnancy, 38 weeks, with no complication; no record of medicine usage during pregnancy. Vaginal deliver, with use of forceps. Weight at birth: 2,430 kg. Neonatal jaundice.

• Previous history of the patient: neuromotor development retardation; normal weight and stature development; convulsive disease started at nine months of age, controlled with sodium valproate; anemia and upper airway infections, and repetitive pneumonias. Physiotherapy since five months of age.

• Orthopedic examination: no spinal deformity, and good trunk control. Absence of contractures of upper limbs. Stable hips, with normal active and passive mobility. Clubfeet, reductible to neutral, mostly at left side. Able to seat without support. Draw in ventral decubitus, not able to walk.

Radiographic examinations of spine were normal. Hip radiographs presented with coxa valga. Orthostatic standing in a parapodium was started, with the use of polypropylene splinting.

About 3 years and 8 months of age the child started to crawl.

A new hip radiograph (Figure 1) evidenced bilateral hip sub-dislocation with a 50% of migration, without acetabular dysplasia. Clubfeet became not reductible, offering no longer condition for splinting or standing. Surgical treatment of the feet and hips was indicated, waiting for clinical conditions for the surgery. It was performed at the age of 5 years, with a varizing osteotomy of proximal femurs, lengthening of Achilles tendon, and plantar bilateral fasciotomy.

DISCUSSION

As Kabuki Syndrome is of low prevalence, and there are no laboratory tests for diagnosis confirmation, diagnosing this syndrome relays on clinical features. The most important KMS feature is a typical facies. This presents with a long eyelid cleft, specially when observed laterally; hypertelorism; bowed eyebrows, with scarce hair, and sparse lateral third; long and curved eyelashes; eversion of the outer part of inferior eyelid; large ears, protrused and soft, with low implantation; depressed nose tip, and short nasal septum; tall and bowed palate and/or palatal cleft. Besides this, were also described low occipital hair implantation; deficient dentition, and dispersed teeth; retrognatia; strabism; and bluish color of sclera^{(1,4,6,7, 8,11,14)}. Some of these mentioned features can be observed in (Figure 2), such as large ears, protrused and low implanted, hypertelorism, long eyelid cleft, retrognatia, strabism among others.

In musculoskeletal system there were described scoliosis, vertebral and rib deformations, delayed bone maturation, musculo-ligamental flaccidity, hyperplasia of medium phalanx of 5^th hand finger, shortening of metacarpals (3^rd and 5^th), clynophalangia, brachydactylia, conic epiphyses, pseudo-epiphyses in hands, patellar dislocation, hypotonia and congenital hip dislocation. This last one, according to literature, may be found in up to 33% of KMS^(2,3,6,7). In this case the child has no spinal deformity, however has bilateral progressive sub-dislocation of the hips, without acetabular dysplasia. The patient has ulnal digital loops, clynophalangia (Figure 3). Nevertheless it is not described in literature, this patient has clubfeet, initially flexible and recently presenting a rigid pattern in spite of orthesis usage (polypropylene splint) and use of physiotherapy.

Another frequent feature in patients with this syndrome is increased trend to infections, involving 60% of the patients ^8,11. Repeated infections such as pneumonia, otitis media and infection of upper airways was present⁽²⁾. It is still not clear what is the role of structural organ abnormalities, neuromuscular dysfunctions and immunological disturbs, that contribute for the infectious episodes⁽¹²⁾. The described patient presented this pattern, with several episodes of pneumonia and upper airway infections.

Mental and psychomotor development retardation involve more than 90% of the KMS⁽¹¹⁾, however the degree of commitment ranges widely from a normal or light retardation (IQ > 90) to a severe retardation of mental development (IQ = 15 to 20). Most of the patients are ranked as severe. Some have a severe motor and cognitive involvement, while others present with an imbalance between motor and cognitive involvement. This patient has an average retardation of neuromotor development, and is still unable to walk independently. Her IQ was not evaluated.

The hearing dysfunction is a frequent feature in KMS patients, reaching 24% in a study of 62 patients⁽¹⁰⁾. Abnormalities of inner ear are indicated as causative of these hearing problems, however recurrent otitis media can also have an etiologic role. Hearing loss in this syndrome can be partial or total, according to inner ear abnormalities. It is currently recommended to perform a CT scan of ear bones and auditory test for an early recognition of hearing abnormalities⁽⁵⁾.

This patient had a preliminary auditory test at the age of 1 year, with a normal result. There is indication for auditory test with evoked potential evaluation.

According to the pattern found in almost all KMS patients, this child has an autistic behavioral pattern, with stereotiped and repetitive movements, with no reaction to external stimuli. At the age of 3 years, the child still did not present any language development.

Occurrence of seizures is frequently described, reaching in some papers 39% of the cases⁽¹²⁾. These episodes present with a varied age of start, ranging from the neonatal period to around 10 years old. In this case, seizures started early, at 9 months, and were well controlled with sodium valproate up to 3 years old. After this age became it difficult to manage even under medication.

There are still descriptions of visceral abnormalities in Kabuki Syndrome as:

- Cardiac: congenital malformation occurs in 30% of the patients, presenting with aortal coarctation, bicuspid aorta and/or septal ventricular and atrial defects^(2,5,12,14).

- Renal and urinary tract: may occur malformations, horse shoe kidneys, double renal pelvis, duplication of collector system, merged kidneys, megaloureter, hydronephrosis, hydroureter, renal dysplasia, renal hypoplasia, bilateral coronal synostosis and urinary tract infections^(2,4,12).

- Gastrointestinal and hepatic: were described malabsorption, misrotation, anal atresia and biliar atresia, colestasis, unperfured anus, recto-vaginal fistula, neonatal sclerosing colangitis, ileal perforation, cirrhosis, portal hypertension, esophageal varix and secretor diarrhea. Besides, 15% of the patients have severe neonatal jaundice^{(1,2,6,7,12,14)}.

This patient had neonatal jaundice, however no visceral abnormality was found yet.

Nevertheless Kabuki Make-up Syndrome is known since 1981, few reports are found in the literature review. It is convenient to present this case in order to highlight the existence of this syndrome and all of its complexity. It is expected that in a near future new resources will become available in order to support medical diagnosis of this syndrome.

Address for correspondence

Rua João Vergani,1260

CEP: 95076-640 Caxias do Sul, RS

E-mail: [e-mail]

Trabalho recebido em 18/02/2002. Aprovado em 28/04/2002

Work performed at the Orthopedic and Traumatologic Surgery Service Universidade de Caxias do Sul - Caxias do Sul - RS

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Publication Dates

• Publication in this collection
  25 Feb 2003
• Date of issue
  Sept 2002

History

• Accepted
  28 Apr 2002
• Received
  18 Feb 2002