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ArticleClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology2024

Pseudohypoparathyroidism type 1B with involuntary movements: a case report and literature review.

Junko Naganuma, Hiroshi Suzumura, Satomi Koyama, Miho Yaginuma, Yuji Fujita, Yoshiyuki Watabe, George Imataka, Keiko Matsubara, Masayo Kagami, Shigemi Yoshihara

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In one paragraph

Article in Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

Junko NaganumaDepartment of Pediatrics, Dokkyo Medical University, Tochigi 321-0293, Japan.
Hiroshi SuzumuraDepartment of Pediatrics, Dokkyo Medical University, Tochigi 321-0293, Japan.
Satomi KoyamaDepartment of Pediatrics, Dokkyo Medical University, Tochigi 321-0293, Japan.
Miho YaginumaDepartment of Pediatrics, Dokkyo Medical University, Tochigi 321-0293, Japan.
Yuji FujitaDepartment of Pediatrics, Dokkyo Medical University, Tochigi 321-0293, Japan.
Yoshiyuki WatabeDepartment of Pediatrics, Dokkyo Medical University, Tochigi 321-0293, Japan.
George ImatakaDepartment of Pediatrics, Dokkyo Medical University, Tochigi 321-0293, Japan.
Keiko MatsubaraDepartment of Molecular Endocrinology, National Center for Child Health and Development, Tokyo 157-8535, Japan.
Masayo KagamiDepartment of Molecular Endocrinology, National Center for Child Health and Development, Tokyo 157-8535, Japan.
Shigemi YoshiharaDepartment of Pediatrics, Dokkyo Medical University, Tochigi 321-0293, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pseudohypoparathyroidism (PHP) is a rare disorder characterized by convulsions, tetany, and sensory abnormalities caused by hypocalcemia due to parathyroid hormone (PTH) resistance. Only few patients present with involuntary movements. We report the case of a 7-yr-old girl with PHP and involuntary movements triggered by running. Initially, she was suspected of having paroxysmal kinesigenic dyskinesia and was treated with carbamazepine (CBZ). Involuntary movements were reduced. However, 2 months post-treatment, she experienced convulsions during a fever. Blood tests and brain computed tomography revealed hypocalcemia, hyperphosphatemia, elevated intact PTH, and calcifications in the frontal cortex and basal ganglia. The patient showed no features of Albright's hereditary osteodystrophy. The involuntary movements disappeared after the discontinuation of CBZ and initiation of calcium and active vitamin D preparations. Methylation-specific multiplex ligation-dependent probe amplification for the

Indexed as

hypocalcemiainvoluntary movementpseudohypoparathyroidism 1B

Identifiers

PMID38993714
PMCPMC11234180

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.