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OJHAS Vol. 8, Issue 3: (2009
Jul-Sep) |
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Arthrogryposis: A Rare Manifestation in Infant of Diabetic
Mother |
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Amar M. Taksande, Associate Professor,
KY Vilhekar, Professor & Head,
Arvind Kumar,Lecturer,
Department of Pediatrics,
Mahatma Gandhi Institute of Medical Sciences,
Sevagram, Wardha, Maharashtra - 442102.
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Address For Correspondence |
Department Of Pediatrics,
Mahatma Gandhi Institute of Medical Sciences,
Sevagram, Wardha,
Maharashtra - 442102
India.
E-mail:
amar_bharti2000@yahoo.co.uk |
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Taksande AM, Vilhekar KY, Arvind Kumar. Arthrogryposis: A Rare Manifestation in Infant of Diabetic
Mother. Online J Health Allied Scs.
2009;8(3):13 |
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Submitted: Sep 27, 2009; Accepted:
Sep 30, 2009 Published: Oct 15, 2009 |
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| Abstract: |
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Arthrogryposis multiplex congenita is characterized by
non-progressive, multiple joint contractures present at birth. The major cause of arthrogryposis is fetal akinesia due to
fetal abnormalities like neurogenic, muscle, connective tissue abnormalities or maternal disorders Here we report a rare case
of arthrogryposis in infant of diabetic mother with multiple congenital anomalies.
Key Words: Infant of diabetic mother,
Arthrogryposis, Lower limb
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Infants of diabetic mother (IDM) are at
an increased risk of morbidity and mortality related to the respiratory distress, growth abnormalities, hyperviscosity
secondary to polycythemia, hypoglycemia and congenital malformations. Central nervous system, renal, cardiovascular,
and gastrointestinal anomalies are more frequently found in the IDM babies.[1] The overall risk is 8-15%, with 30-50% of
perinatal fatalities related to major congenital malformations. Poor glycemic control early in pregnancy directly
correlates with a higher incidence of congenital malformations.[2] Previous studies suggest that the birth defects in
IDMs may be related to reduced arachidonic acid and myoinositol levels and elevated sorbitol and trace metal levels in
the fetus.2-4 Here we report a neonate who was born to mother affected with type 2 diabetes had arthrogyrosis with
multiple congenital anomalies.
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The full term female newborn was product of a
non-consanguineous parent delivered by emergency cesarean section due to breech presentation with inadequate pelvis
with previous scar to a 32 year old second gravid mother. The newborn had an agar score of 6,9,10 at 1, 5, and 10
minute. The pregnancy was complicated by Type 2 diabetes in mother and she was on insulin injection. The birth
weight of the child was 3123gm, head circumference 35 cm and approximate length was 44cm.
On physical examination, the infant had characterstic facies with depressed nasal bridged, widely open mouth and
low set ear with preauricular tags on left side. Temperature was 37.2º C, heart rate 124 beats/minute, and respiratory rate
54/ minute. Anterior fontanel was open. Hypospadiasis with left sided inguinal hernia was present. Lower limbs were arthrogrypotic
characterized by the hip was fixed in flexion, knees were extended, ankles were dorsi-flexed and the foot had eqiunovarus
deformity (Fig.1). Bilateral congenital hip dislocation with restriction of the lower limb movement was present.
Shortening of the lower limb was present. No history of similar illness was found in the family. Based on these
skeletal abnormalities, she was diagnosed as arthrogryposis. On cardiovascular examination, soft systolic murmur was present.
Other systemic examination was within normal limit. On investigation, complete blood cell count was: Hb: 15gm%, TC: 10,600/cmm
(LY32%, MO 10%, GR 58%) and platelet count: 5.1 lac/cmm. Transthoracic Colour Doppler echocardiographic revealed small size
patent ductus arteriosus (PDA). Infantogram showed sacral agenesis. Neurosonography revealed normal brain parenchyma with a
normal ventricular system. USG abdomen and pelvis reported normal. We conservatively managed the neonate and discharged after
7 day without any complication.
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Figure 1: Photograph shows infant of diabetic mother baby with lower limb arthrogryposis |
Arthrogryposis multiplex congenita (AMC) is a
congenital anomaly characterized by non-progressive, multiple joint contractures present at birth. In the classic
form of AMC all four limb are involved, but the condition can also occur in the upper or lower limb. An autosomal
dominant variant called distal arthrogryposis involves the hand and feets with severe deformation.5
Multiple joint contracture occur at birth because of limitation of movement in utero and the causative factors
like a) Neuropathy b) Myopathy c) Abnormal connective tissue involving joints d) In utero restraint and e)
Maternal illness.6 Infants born to mothers affected with myotonic dystrophy, myasthenia gravis, or multiple
sclerosis are at risk of AMC. After extensive search in medical literature no single case is reported that infant of
diabetic mother are at risk of arthrogryposis. In our case, IDM baby who had lower limb arthrogryposis along with
multiple other congenital anomalies was present.
The clinical manifestations in arthrogryposis is mainly involved the extremities with thin subcutaneous tissue and
absent skin creases. Symmetrical deformities increases distally, with the hands and feet deformed and joint dislocation,
especially the hips. Normal sensation and deep tendon reflexes may be diminished or absent. Contractures, especially of
distal joints are affected more frequently than proximal joints. Limb deformities include pterygium, shortening, webs,
compression, dislocated radial heads, and dimples. It is very rare that upper limb is spared and only lower limb is affected
which was present in our case. Other deformities include scoliosis, genital deformities, and hernia (inguinal, umbilical).
There may be many other malformations of the skeleton, respiratory tract, urinary system and nervous system.4-6
The incidence of congenital anomalies mainly cardiac malformation and lumbosacral agenesis is increased threefold
in IDM. Other anomalies include neural tube defect, hydronephrosis, renal agenesis, duodenal or anorectal atresia,
situs inversus, double ureter and holoprosencephaly. Congenital anomalies in IDM babies correlelate with poor metabolic
control during the periconception and organogenesis periods and may be due to hyperglycemia induced teratogenesis.7 The
mechanism by which hyperglycemia disturb embryonic development is controversial, but reduced arachidonic acid and myo-inositol
levels and accumulation of sorbitol and trace metals in the conceptus have been reported.7-8 X-ray of all joints may show bony
abnormalities. Neurosonography can help in evaluating the CNS and abdomoinal sonography is helpful for other viscera for
anomalies. CT scan and MRI can be used to evaluate the CNS and the muscle mass. Lower-limb alignment and establishment of
stability for ambulation and upper-limb function for self-care is the main goal. Improves passive and active range of motion
if early manipulation started soon after birth. Physical therapy to improve the range of motion in and stretch surrounding
tissues is very useful, especially in amyoplasia and distal arthrogryposis.9 Surgery is rarely needed to correct soft tissue
contractures and joint deformities.10 In conclusion, lower limb arthrogryposis is a very rare manifestation in infant of
diabetic mother and should be managed conservatively.
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- Nold JL, Georgieff MK. Infant of diabetic mothers.
Pediatric Clinics of North America 2004;51:619-637.
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Neonatal Netw 1997;16:25-33.
- Tyrala E. The infant of the diabetic mother. Obstetrics and
Gynecology Clinics of North America 1996; 23: 221-41.
- Hosalkar HS, Drummond DS. Arthrogryposis.
In Behrman RE,
Kleigman RM, Jenson HB, Stanton BF editors. Nelson Textbook of Pediatrics. 18th ed. Prism Books. WB Saunders,
Philadelphia, 2007; p. 2829-31.
- Hall JG. Genetic aspect of arthrogryposis.
Clin Orthop Rel Res
1985;84:44-53.
- Stoll BJ. The endocrine
system. In Behrman RE, Kleigman RM, Jenson HB,
Stanton BF editors. Nelson Textbook of Pediatrics. 18th ed. Prism Books. WB Saunders, Philadelphia, 2007; p. 783-85.
- Gordon N. Arthrogryposis multiplex congenital.
Brain Dev 1998;20(7):507-11.
- Bernstein RM. Arthrogryposis and amyoplasia.
J Am Acad Orthop Surg
2002;10(6):417-424.
- Sells JM, Jaffe KM, Hall JG, Amyoplasia, the most common type of
arthrogryposis: the potential for good outcome. Pediatrics 1996;97(2):225-31.
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