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Visual Journal of Emergency Medicine
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Rickets in a 12 month old Boy
Brian D Novi, Shahfar Khan, Zachary Kassutto
St. Christopher's Hospital for Children Pediatric Emergency Department. St Christopher's Hospital for Children, Philadelphia, PA, USA
A R T I C L E I N F O
Keywords:
Pediatrics
Pediatric emergency medicine
Vit D de
fi
ciency
Hypocalcemia
Hypophosphatemia
Rickets
1. Discussion
1.1. Visual case discussion
A 12 month old African American boy with no signi
fi
cant past
medical history presented to the pediatric emergency room for the
evaluation of left shoulder pain. He fell one day prior to presentation,
approximately three feet a bed onto a carpeted
fl
oor. Mother denies any
loss of consciousness, and review of systems was negative. The morning
after the incident, he appeared to be in signi
fi
cant discomfort/pain
upon picking him up. This prompted the visit to the ER. The physical
examination was notable for left clavicle tenderness to palpation and
was otherwise unremarkable.
X-rays of clavicles revealed no osseous fracture, however noted
demineralized bones with proximal aspects of the proximal humeral
metaphases demonstrating a cupping and frayed appearance, char-
acteristic of rickets. The anterior rib ends appeared widened, suggestive
of a rachitic rosary. Pediatric Endocrinology was consulted and re-
commended admission for further work-up and treatment. On repeat
physical examination, patient was found to have mild frontal bossing
without craniotabes and mildly enlarged wrists bilaterally. Lab eva-
luation revealed hypocalcemia (8.4 mg/dL), hypophosphatemia (level),
elevated alkaline phosphatase (995 u/L), elevated parathyroid hormone
(414 pg/ml), low vitamin D 25 Hydroxy (<4 ng/ml), consistent with a
diagnosis of Vitamin D De
fi
cient Rickets. The patient was treated with
Vitamin D 4000 IU daily as well as Calcium Carbonate 100 mg/kg/day
of elemental calcium. He was also given a dose of Calcitriol 0.1 mcg.
Frequent lab monitoring was recommended as an outpatient with
continued Vit D administration.
Rickets is a disease of under-mineralized matrix at the growth plates
in the bones of children before fusion of the epiphyses. Classically,
widening of the wrists and ankles are common manifestations of Rickets
due to continued growth plate cartilage expansion without adequate
mineralization causing growth plate thickening and width
1
.
Rickets is a well described phenomenon, most commonly caused by
vitamin D de
fi
ciency, de
fi
ned by The Endocrine Society as a serum
25(OH)D level of
≤
20 ng/mL (<50 nmol/L) and a
ff
ecting approxi-
mately 9% of US children.
2
. The main circulating form of vitamin D is
25[OH]-D, and therefore, laboratory measurement of this form is the
most accurate means of determining a patient's overall vitamin D status.
Etiology includes decreased synthesis in the skin, insu
ffi
cient dietary
intake, malabsorption, or maternal de
fi
ciency. Risk factors for vitamin
D de
fi
ciency include exclusive breastfeeding without supplementation
(especially if the infant's mother is de
fi
cient in vitamin D), vegetarian
diet, dark skin, decreased sun exposure, higher latitude, and winter
season(3). To prevent de
fi
ciency, the American Academy of Pediatrics
recommends supplementing all breastfed infants and formula-fed in-
fants who are consuming less than 1 L of vitamin D
–
forti
fi
ed formula
each day with 400 IU/day of vitamin D. Premature infants and infants
with other risk factors may require higher doses. ()
Classically, Rickets is sub-clinical without physical manifestations.
However, clinically signi
fi
cant Rickets may present as described above,
as well as with genu varum or valgum.
They may also present with seizures and tetany caused by hypo-
calcemia, poor growth, widened cranial sutures, frontal bossing, or
hypotonia. Radiographs will show widening of the epiphyseal plate
with cupping, splaying, and stippling as the demineralization worsens.
Long bones are osteopenic with thin cortices. In nutritional rickets, the
classic biochemical pro
fi
le includes the triad of hypocalcemia, hypo-
phosphatemia, and elevated alkaline phosphatase levels
3
.
Fig. 1
.
Questions and answers with a brief rationale true & false and / or
multiple-choice questions
•
Tips
: The questions may address issues of etiology, clinical
https://doi.org/10.1016/j.visj.2020.100752
Received 9 January 2020; Received in revised form 24 January 2020; Accepted 20 March 2020
Visual Journal of Emergency Medicine 20 (2020) 100752
2405-4690/ © 2020 Elsevier Inc. All rights reserved.
presentation, di
ff
erential diagnosis, diagnostic testing, natural his-
tory of disease, risk factors, management / treatment, potential
complications, patient disposition, or other subjects pertinent to pre-
hospital and hospital-based emergency medicine healthcare provi-
ders. Additional question writing guidelines can be found here.
•
Note:
You will have an opportunity to review the questions and
answers before submitting your completed article. The questions
and answers will not be a part of the
fi
nal author proof. The ques-
tions will appear alongside your article in a test format.
1 A 16 month-old African American girl is evaluated for
“
bowing
”
of
her legs. She was born at term and has been healthy. She was ex-
clusively breastfed until 6 months of age, and since then continues
to breastfeed and eat a variety of family foods; She has never taken
any vitamins. She is not yet walking alone, but is cruising. She ap-
pears small for her age. Her physical examination
fi
ndings are re-
markable only for bilateral, symmetric genu varum, corroborated by
a x-ray. She has low levels of calcium, phosphorus, and 25-hydro-
xyvitamin D. She has elevated parathyroid hormone and alkaline
phosphatase levels. Of the following, the girl's MOST accurate di-
agnosis is
a) 1a-hydroxylase de
fi
ciency (vitamin D
–
dependent rickets type 1)
b) hereditary resistance to vitamin D (vitamin D
–
dependent rickets
type 2)
c) hypophosphatemic rickets
d) vitamin D
–
de
fi
cient rickets
Answers
a)
Correct Answer
= d. The girl in this vignette has vitamin D
–
de
fi
cient
rickets. She has risk factors of exclusive breastfeeding without vi-
tamin D supplementation and dark skin. Her genu varum, small
stature and delayed gross motor milestones support the diagnosis.
The girls low levels of calcium, phosphorus, and 25-hydroxyvitamin
D and elevated levels of parathyroid hormone and alkaline phos-
phatase con
fi
rm the diagnosis
Vitamin D is naturally found in liver and other organ meats; egg
yolk; oily
fi
sh such as salmon, sardines, and mackerel; and cod liver
oil. Many foods are forti
fi
ed with vitamin D, including milk, juices,
and infant formulas. Although breast milk is the best source of nu-
trition for neonates and infants, it typically contains insu
ffi
cient
concentrations of vitamin D for an infant to meet the recommended
daily intake. (3)
Declaration of Competing Interest
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Please complete the generic template Declaration of Interest/Author
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Supplementary materials
Supplementary material associated with this article can be found, in
the online version, at
doi:10.1016/j.visj.2020.100752
.
References
1.
Holick MF, Binkley NC, Bischo
ff
-Ferrari HA, et al. Endocrine society. Evaluation,
treatment, and prevention of vitamin D de
fi
ciency: an endocrine society clinical
practice guideline.
J Clin Endocrinol Metab.
2011;96(7):1911
–
1930.
2.
by Greenbaum Larry A. Vitamin D de
fi
ciency (Rickets) and excess. In: Kliegman
Robert M, Nelson Waldo E, eds.
Nelson Textbook of Pediatrics.
Elsevier;
2020:375
–
379 by.
3. Diab Liliane, Krebs Nancy F. Vitamin excess and de
fi
ciency.
Pediatr Rev.
Apr
2018;39(4):161
–
179.
https://doi.org/10.1542/pir.2016-0068
.
Fig. 1.
AP Chest
X
-ray showing demineralized bones with proximal aspects of
the proximal humeral metaphases demonstrating a cupping and frayed ap-
pearance, characteristic of rickets. The anterior rib ends appeared widened,
suggestive of a rachitic rosary.
B.D. Novi, et al.
Visual Journal of Emergency Medicine 20 (2020) 100752
2
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