Treatment of congenital clubfoot in a patient with Jacobsen syndrome using Ponseti method: A case report

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Abstract


Introduction. Jacobsen syndrome, characterized by multiple developmental anomalies, is a rare genetic syndrome caused by a partial deletion of the long arm of the 11th chromosome. The incidence is 1 : 100,000 live births. Patients of this group have malformations of the heart, kidneys, gastrointestinal tract, central nervous system, and skeleton. The severity of clinical features is diverse. Jacobsen syndrome rarely combines with a congenital clubfoot.

Case report. The clinical case of using the Ponseti method for the treatment of congenital clubfoot in combination with Jacobsen syndrome is presented. As a result, a complete primary correction of the foot was obtained, which did not relapse within 2 years.

Discussion. Only brief references to this pathology were found in the literature. In the case of our patient, a greater number of gypsum dressings were required to complete the primary correction of the foot.

Conclusion. Painless foot has been achieved, which has a full range of motion, which confirms the success of the application of the Ponseti method for the treatment of non-idiopathic congenital clubfoot and the need for using it as a starting method.


Introduction

Jacobsen syndrome (JS) is a rare group of genetic syndromes caused by a partial deletion of the long arm of chromosome 11. The characteristics of JS include multiple congenital anomalies combined with psychomotor retardation, visceral malformations, and some orthopedic problems [1]. This syndrome was first described by Jacobsen in 1973 in several members of one family who inherited an unbalanced translocation of 11;21 from a parent who carried a balanced translocation [1].

More than 200 JS cases have been described [2, 3] and its incidence is 1 : 100,000 live births. The ratio of males to females is 2 : 1 [2-4].

The most common clinical signs of JS include pre- and postnatal retardation of physical development, psychomotor development, characteristic facial dysmorphism, thrombocytopenia, or pancytopenia. Patients have malformations of the heart, kidneys, gastrointestinal tract, genitalia, central nervous system, and/or skeleton. There may also be impairments of hearing and vision, as well as hormonal and immunological disorders [2, 4].

The clinical severity of symptoms can vary. Cases of JS combined with such orthopedic pathologies as platypodia of the large and long great toe, clinodactyly, brachydactylia, syndactylia of toes 2 and 3, and zygodactyly are described. It should be noted that the combination of JS and congenital clubfoot is extremely rare. The available literature provides only a few references to this pathology, and there are no data on the severity, or the methods and results of treatment.

Currently, the gold standard for treating congenital clubfoot is the Ponseti method [5]. This method has revolutionized the treatment of congenital idiopathic and syndromic clubfoot [6].

In this publication, we present our own clinical observation of a patient of two years with JS combined with congenital clubfoot.

Case description

A full-term male (weight was 2870 g, height was 50 cm, Apgar score was 7/7) was delivered via cesarean section at 38 because of threatening fetal hypoxia (discharge of meconium-colored amniotic fluid and lack of effect of labor induction). During the initial examination on day 2 of life, we noted a moderately severe congenital eqinocavovarus deformity of the right foot, and degree II hypotrophy (Fig. 1). In addition, there were multiple signs of dysembryogenesis, namely low-lying auricles, hypertelorism, high palate, transverse sulci on the palmar surfaces of both hands, cryptorchism, hypoplasia of the preputium, and divergence of the rectus abdominal muscles. Because of the above clinical signs, his blood was sampled and sent to the genetic laboratory for karyotyping.

 

Fig. 1. Patient’s appearance before treatment

 

The severity was 5.5 points on the Pirani system [7] (Table 1) and 17 points on the Dimeglio system [8] (IV degree) (Table 2). Given the patient’s generally severe condition, we postponed orthopedic treatment until his condition improvement. Later, frequent abundant regurgitation appeared and the child was transferred to the surgical department, where a duodenal obstruction was detected. He was sent to surgery day 12 where he was diagnosed with atresia of the duodenum. On clinical blood testing, thrombocytopenia was 84 · 109/l. Genetic testing revealed JS 46,XY, del(11)(q23)[18]/46,XY[2], pathological clone with 11q deletion in 90% of metaphases (Fig. 2).

 

Table 1. Initial severity on the Pirani scale (points)

Signs

Points

Curvature of the fibular border of the foot

0.5

Medial fold

1

Posterior fold

1

Lateral part of the head of talus

1

Calcaneus position

1

Equinus

1

 

Table 2. Initial severity on the Dimeglio scale

Signs

Correctability, °

Points

Additional signs

Points

Equinus

37

3

Deep posterior fold above the heel

1

Heel varus

38

3

Deep transverse plantar fold

1

Internal rotation of the foot

60

4

Significant cavus foot

1

Adduction of the forefoot

22

3

Significant muscular atrophy

1

 

Fig. 2. Male karyotype, deletion of the long arm of chromosome 11 (locus 11q23)

 

On day 17 of life, a high plaster cast was applied on the right lower extremity using the Ponseti method [5], from the tips of the toes to the upper third of the thigh in the supination position, for a period of 1 week. Before each subsequent plaster cast application, the foot was manipulated. After 9 staged plaster casts, foot correction was obtained (cavus, adduction, varus were corrected). To obtain complete foot correction, subcutaneous achillotenotomy was necessary. Due to the child’s deteriorating condition, and pancytopenia on blood tests, the patient was hospitalized in the hematology department and underwent bone marrow puncture combined with subcutaneous achillotenotomy of the right foot. After 3 weeks, the cast was removed and his foot deformity was completely corrected. Changes in severity after the removal of the last plaster cast, according to Pirani and Dimeglio systems, are shown in Tables 3 and 4. The Denis Brown abduction splint was applied for 23 h per day for a period of 3 months. After the specified period, the time of use was reduced by 3 h for a period of 1 month. Later, the abduction splint use was reduced by 1 h per month upon reaching night sleep use.

 

Table 3. Severity on the Pirani scale after the removal of the last plaster cast (points)

Signs

Points

Curvature of the fibular border of foot

0

Medial fold

0

Posterior fold

0

Lateral part of the head of talus

0

Calcaneus position

0

Equinus

0

 

Table 4. Dimeglio scale severity after removing the last plaster cast

Signs

Correctability, °

Points

Additional signs

Points

Equinus

–22

1

Deep posterior fold above the heel

0

Heel varus

–5

1

Deep transverse plantar fold

0

Internal rotation of the foot

–20

1

Significant cavus foot

0

Adduction of the forefoot

–5

1

Significant muscular atrophy

0

 

Currently, the child walks independently and without additional supports. The patient’s appearance is presented in Figure 3.

 

Fig. 3. The appearance of the patient after treatment: а — front view; b — rear view

 

Discussion

In everyday practice, cases of congenital idiopathic clubfoot are common; but there are very rare cases associated with connective tissue pathologies, neurological conditions, and chromosomal abnormalities [5, 9, 10]. The available literature provides only single references to this pathology, and there are also no data on its severity, methods, or results of treatment [1]. A small number of reports on the use of the Ponseti method for treating congenital syndromic clubfoot have been published [9, 11–13]. Janicki et al. [11] reported that patients with syndromic clubfoot needed more plaster casts, and often had relapses of the deformities, compared with idiopathic clubfoot. Moroney et al. [13], described the treatment of 29 patients with non-idiopathic clubfoot, and indicated primary correction success in 91% of cases; however, deformity relapse occurred in 44 and 37% cases, which required extensive surgical treatments. Gurnett et al. [10] also believe that more plaster casts were required to treat non-idiopathic clubfoot using the Ponseti method. All authors noted the efficacy of the Ponseti method and recommended it as a first-line treatment for syndromic or non-idiopathic congenital clubfoot.

In the case of our patient, similar conclusions were made. He needed additional plaster casts, and achieved complete primary foot correction, without relapse within two years. Ultimately, we achieved painless foot support with full range of
motion.

Conclusions

The Ponseti method should be used as a first-line treatment for syndromic and non-idiopathic clubfoot to obtain a fully functional foot. The treatment of syndromic clubfoot requires multiple plaster casts.

Additional information

Source of funding. The study was not funded.

Conflict of interest. The authors declare no evident or potential conflicts of interest related to the publication of this article.

Ethical review. The patient’s parents signed a voluntary informed consent to participate in the study, as well as for the processing and publication of personal data.

Contributions of the authors

I.Yu. Kruglov was involved in examination and treatment of the patient, writing all sections of the article, as well as literature collection and processing.

N.Y. Rumyantsev, G.G. Omarov, N.N. Rumyantseva took part in the examination and treatment of the patient.

Igor Yu. Kruglov

Almazov National Medical Research Center

Author for correspondence.
Email: dr.kruglov@yahoo.com
ORCID iD: 0000-0003-1234-1390

Russian Federation, 2 Akkuratova str., Saint- Petersburg, 197341

MD, Paediatric Orthopaedic Surgeon, Junior Researcher of Research Laboratory of Congenital and Hereditary Pathology Surgery

Nicolai Yu. Rumyantsev

Almazov National Medical Research Center

Email: dr.rumyantsev@gmail.com
ORCID iD: 0000-0002-4956-6211

Russian Federation, 2 Akkuratova str., Saint- Petersburg, 197341

MD, Paediatric Orthopaedic Surgeon

Gamzat G. Omarov

The Turner Scientic Research Institute for Childrens Orthopedics

Email: ortobaby@yandex.ru
ORCID iD: 0000-0002-9252-8130

Russian Federation, 64, Parkovaya str., Saint-Petersburg, Pushkin, 196603

MD, PhD, Research Associate

Natalia N. Rumiantceva

Almazov National Medical Research Center

Email: natachazlaya@mail.ru
ORCID iD: 0000-0002-2052-451X

Russian Federation, 2 Akkuratova str., Saint- Petersburg, 197341

MD, Paediatric Orthopaedic Surgeon, Junior Researcher of Research Laboratory of Congenital and Hereditary Pathology Surgery

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Supplementary files

Supplementary Files Action
1. Fig. 1. Patient’s appearance before treatment View (285KB) Indexing metadata
2. Fig. 2. Male karyotype, deletion of the long arm of chromosome 11 (locus 11q23) View (141KB) Indexing metadata
3. Fig. 3. The appearance of the patient after treatment: а — front view; b — rear view View (438KB) Indexing metadata

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Copyright (c) 2018 Kruglov I.Y., Rumyantsev N.Y., Omarov G.G., Rumiantceva N.N.

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